| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Microstomia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Seckel syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Diastrophic dysplasia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Congenital microhepatia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital small anus |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenitally small punctum lacrimale |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microphakia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcolon |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Dysplasia of eye |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Congenital microcheilia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Simple microphthalmos |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Megacystis, microcolon, hypoperistalsis syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Microgyria |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Micromelia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Hydromicrocephaly |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Barber-Say syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Lenz microphthalmia syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital bilateral perisylvian syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microspherophakia (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Microcornea of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcornea of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Bilateral microphthalmos |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bilateral microphthalmos |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| SOX2 anophthalmia syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Uterus parvicollis |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Amish lethal microcephaly (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcephaly-capillary malformation syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupillae and retinal detachment. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital miosis (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Microtia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Abnormal smallness (morphologic abnormality) |
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 |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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 |
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