Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Spina bifida aperta of lumbar spine (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Duhamel operation, abdominoperineal pull-through |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Acquired anomaly of mouth (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self-injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Abnormal communication |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Vascular malformation (morphologic abnormality) |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Melnick-Needles syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
hydromyéloméningocèle |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
hydromyéloméningocèle |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
6 |
Lumbar meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Lumbar meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Myelomeningocele without hydrocephalus (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lipomyelomeningocele |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Meningomyelocele (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Meningomyelocele (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Thoracic meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Thoracic meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Cervical meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Cervical meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
A rare frontonasal dysplasia malformation syndrome characterised by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital septation |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Congenital hypersegmentation |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Trilobed structure |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Bilobed structure |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
|
Bronchopulmonary collateral artery |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Congenital vesicoureterorenal reflux, bilateral |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Congenital vesicoureterorenal reflux, bilateral |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Hypersensitivity keratopathy of bilateral eyes caused by staphylococcus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Hypersensitivity keratopathy of right eye caused by staphylococcus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Congenital anomaly of right optic disc |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Congenital anomaly of bilateral optic discs (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Congenital anomaly of bilateral optic discs (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital anomaly of left optic disc (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Cerebral-retinal arteriovenous aneurysm (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Duplex kidney with reflux in one ureter |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Duplex kidney with reflux in both ureters |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lipomyelomeningocele |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Fetal spina bifida (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Meningomyelocele of lumbosacral spine (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
6 |
Meningomyelocele of lumbosacral spine (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Hypersensitivity keratopathy of left eye caused by staphylococcus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Release of constriction ring |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Dry skin dermatitis |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Myelomeningocele without hydrocephalus (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Reunion Island Larsen-like syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Myelomeningocele that occurs in the region L1 to L3. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Myelomeningocele that occurs in the region L4 to L5. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Osteochondrodysplasia with osteopetrosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Hyperkeratosis of mucous membrane of mouth due to and following traumatic injury (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Pseudovaginal perineoscrotal hypospadias |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Hypersensitivity keratopathy of bilateral eyes caused by staphylococcus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Keratoderma blennorrhagicum (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Division of constricting band on limb |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Amelogenesis imperfecta, pigmented hypomaturation type (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Enamel-renal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Creation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
7 |
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Origin of innominate artery from left side of aortic arch |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
syndrome d'Ehlers-Danlos de type cyphoscoliotique |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Leprechaunism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Leprechaunism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Derangement of left knee (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Derangement of right knee (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Derangement of meniscus of right knee joint (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Derangement of meniscus of left knee joint (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Derangement of meniscus of bilateral knee joints (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |