| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Stickler syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Bone dysplasia Azouz type |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Dacryocystitis and osteopoikilosis syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Robinow-like syndrome |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| MEDNIK-Syndrom |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
| A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Some |
|
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