Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital right vesicoureterorenal reflux |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital right vesicoureterorenal reflux |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Hereditary neurocutaneous angiomata (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Hereditary neurocutaneous angiomata (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Distal penile hypospadias |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Amelogenesis imperfecta - recessive - rough |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Congenital abnormalities of thoracic aortic branches |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Congenital anomaly of lumbar vertebra |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Completely unroofed coronary sinus defect in left atrium (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Completely unroofed coronary sinus defect in left atrium (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Beaded hair |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia). |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia). |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Ectodermal dysplasia with hair-nail defect |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Ectodermal dysplasia with hair-nail defect |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Ectodermal dysplasia with hair-nail defect |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Spina bifida aperta |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Spina bifida aperta |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Windblown hand |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Goniodysgenesis (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Goniodysgenesis (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Kenny syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Systemic to pulmonary collateral artery connecting with isolated intraparenchymal pulmonary arteries (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
X-linked muscular dystrophy with limb girdle distribution |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Cervical thyroid remnant |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Alobar holoprosencephaly |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Congenital anomaly of cardiovascular system |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Aortic orifice right side by side with respect to pulmonary orifice (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Lack of ossification of centrum of thoracic vertebra |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital anomaly of spleen |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Microdysgenesis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Kommerell's diverticulum |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Kommerell's diverticulum |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Multiple malformation syndrome with facial defects as major feature |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
faux hermaphrodite |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Bilateral deficient infundibula |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Congenital anomaly of carpal bone (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Nodular embryo |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Congenital anomaly of gastrointestinal tract |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Caudal regression syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Displacement of Wharton's duct |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital anomaly of endocrine testis (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Left sided azygos continuation of inferior vena cava to left superior vena cava (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Ataxia-telangiectasia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
syndrome d'hypertrichose-faciès acromégaloïde |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
syndrome d'hypertrichose-faciès acromégaloïde |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
5 |
Malformation of throat |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Phakomatosis spilorosea |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Phakomatosis spilorosea |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Phakomatosis spilorosea |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital umbilical defect |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Lymphatic malformation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Exaggerated cusp of tooth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Exaggerated cusp of tooth |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Coffin-Siris syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Ectopic gastric mucosa - multiple sites (disorder) |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Fetal cocaine syndrome (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Lumbar spina bifida with hydrocephalus - open |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
4 |
Manifesting female carrier of X-linked muscular dystrophy |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Acropectororenal dysplasia |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Acropectororenal dysplasia |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Acropectororenal dysplasia |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Lack of ossification of metatarsal bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
2 |
Congenital malformation syndromes with metabolic disturbances |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Craniolacunia |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Craniorachischisis |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Common atrioventricular junction (disorder) |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Taenzer's hair |
Associated morphology |
True |
Morphologically abnormal structure |
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 |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Persistent tuberculum impar |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Some |
3 |
Fetal benzodiazepine syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Some |
1 |