| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| 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). |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcornea |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcornea with corectopia and macular hypoplasia syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Reconstruction of microtia with free flap (procedure) |
Direct morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Reconstruction of microtia with free flap and microvascular anastomosis |
Direct morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microphthalmic socket (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Thrombocytopathy, asplenia and miosis (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| Congenital microgastria |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Microphthalmos of right eye |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microphthalmos of left eye |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Reconstruction of microtia with flap (procedure) |
Direct morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Reconstruction of microtia with microvascular anastomosis (procedure) |
Direct morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Reconstruction of microtia with graft (procedure) |
Direct morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Microphthalmos |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bilateral frontal polymicrogyria |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bilateral generalized polymicrogyria (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bilateral parasagittal parieto-occipital polymicrogyria |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bilateral parasagittal parieto-occipital polymicrogyria |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Microphthalmos due to Fryns syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microphthalmos due to Delleman syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Micromelic dwarfism Fryn type |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcephaly with simplified gyral pattern |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microphthalmos due to branchio-oculo-facial syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microlissencephaly |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed and may be severe. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare bone disease and a form of microcephalic primordial dwarfism characterised by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital microencephaly (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Syndromic nanophthalmos due to Kenny-Caffey syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Small forehead |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Small epiphysis of middle phalanx of finger (finding) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Small epiphysis of phalanx of fourth toe |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Small epiphysis of distal phalanx of hand |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Small epiphysis of phalanx of fifth toe |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Small epiphysis of metacarpal |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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