| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterised by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the double-ring sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected. |
Is a |
False |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Polydactyly of biphalangeal thumb (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Infundibulopelvic stenosis multicystic kidney syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| déficience intellectuelle liée à l'X type Brooks |
Is a |
False |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. |
Is a |
False |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterised by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal alpha-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| An exceedingly rare association characterized by cleft lip and progressive retinopathy. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Craniosynostosis fibular aplasia syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A very rare syndrome described in four siblings of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
Is a |
False |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Ulna metaphyseal dysplasia syndrome (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Syndactyly of fingers type 8 (disorder) |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). |
Is a |
True |
Developmental hereditary disorder |
Inferred relationship |
Some |
|
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