| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenitally small punctum lacrimale |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| Microspherophakia (disorder) |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| Fetal microcephaly (disorder) |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Congenital bilateral perisylvian syndrome (disorder) |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Thrombocytopathy, asplenia and miosis (disorder) |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| microcéphalie autosomique dominante bénigne |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| microcéphalie primitive |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| dysplasie ostéodysplasique microcéphalique type Saul-Wilson |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| microcéphalie |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Secondary microcephaly |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Microcephaly-capillary malformation syndrome |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| Amish lethal microcephaly (disorder) |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
6 |
| A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| SOX2 anophthalmia syndrome |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Micromelic spondyloepimetaphyseal dysplasia |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| Oculocerebral dysplasia syndrome |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Micromelia |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
6 |
| Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
8 |
| Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
12 |
| Microcornea with corectopia and macular hypoplasia syndrome (disorder) |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
7 |
| A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
6 |
| 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). |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Microtia |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
7 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
6 |
| A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
6 |
| A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Congenital intrauterine infection-like syndrome is characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Congenital intrauterine infection-like syndrome is characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
6 |
| A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
9 |
| A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
6 |
| Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
7 |
| A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
7 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| Renier Gabreels Jasper syndrome |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| Renier Gabreels Jasper syndrome |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
6 |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
| A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
1 |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
2 |
| A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
4 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
5 |
| 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. |
Associated morphology |
False |
Congenital smallness |
Inferred relationship |
Some |
3 |
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