Gene Role Disease OMIM Descriptions Sources
MIR17HG causing FGLDS2 614326 The disease is caused by mutations affecting the gene represented in this entry. Microdeletions encompassing the MIR17HG locus can be responsible of FGLDS2. A syndrome characterized by microcephaly, short stature, and digital abnormalities including brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs of variable severity, and cutaneous syndactyly of the toes. [read more] 21892160
MYCN causing FGLDS1 164280 The disease is caused by mutations affecting the gene represented in this entry. A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, mental retardation, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. [read more] 15821734
16906565
NEK1 causing SRPS2A 263520 The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (short rib-polydactyly syndrome 2A/B) (PubMed:21211617). A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length. [read more] 21211617
22499340
NOG causing BDB2 611377 The disease is caused by mutations affecting the gene represented in this entry. A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. [read more] 17668388
OFD1 causing OFD1 311200 The disease is caused by mutations affecting the gene represented in this entry. A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys. [read more] 12595504
11179005
11950863
16397067
23033313
PIK3CA causing MCAP 602501 The disease is caused by mutations affecting the gene represented in this entry. A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria. [read more] 22729224
PORCN causing FODH 305600 The disease is caused by mutations affecting the gene represented in this entry. A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present. [read more] 17546031
17546030
18325042
19863546
19277062
19309688
19586929
21472892
PTCH1 causing BCNS 109400 The disease may be caused by mutations affecting the gene represented in this entry. An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. [read more] 8840969
8981943
9620294
11231326
15459969
PVRL1 causing EDMI 225060 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. [read more] 10932188
PVRL4 causing EDSS1 613573 The disease is caused by mutations affecting the gene represented in this entry. A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. [read more] 20691405