Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Proximal femoral focal deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Common arterial trunk with aortic dominance (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Triplication of appendix |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
syndrome de dyschondrostéose - néphropathie |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
syndrome de dyschondrostéose - néphropathie |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Manus extensa |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Aglossia-adactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Double mitral valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Incomplete ossification of supraoccipital bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multiple malformation syndrome with facial-limb defects as major feature |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Incomplete ossification of centrum of lumbar vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pre-eruptive color change of tooth |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Mesomelic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Junctional epidermolysis bullosa gravis of Herlitz (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Roger's disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Thrombocytopathy, asplenia and miosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital postural lordosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Congenital hypoplasia of cardiac ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atrioventricular septal defect - ventricular component under inferior bridging leaflet |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Persisting fifth aortic arch with atresia of fourth arch (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital fistula between uterus and urinary tract |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Congenital chorioretinal degeneration |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of tarsal bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital nuclear ophthalmoplegia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniodiaphyseal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Achondrogenesis, type II |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Grebe syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Vitelline duct polyp (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Sandman-Andra syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Rolland-Debuqois syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypoplasia of uterus and cervix |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Supernumerary fused sternebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Complete bilateral cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Complete bilateral cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Uterus subseptus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Inverse junctional epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multiple café-au-lait macules due to neurofibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multiple café-au-lait macules due to neurofibromatosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Tracheal origin of right upper lobe bronchus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Uterus cordiformis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Kartagener syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Bilateral renal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Complete situs inversus with dextrocardia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Thanatophoric dysplasia, type 2 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital pericardial defect (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Dysplasias with significant membranous bone involvement |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Branchial cleft, cyst or fistula; preauricular sinus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital pulmonary artery conduit |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Right renal agenesis co-occurrent with left renal hypoplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. |
Occurrence |
True |
Congenital |
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. |
Occurrence |
True |
Congenital |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft soft palate with right cleft lip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |