You are using an outdated browser. Please upgrade your browser to improve your experience.

orofaciodigital syndrome IV

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
Uniprot Description A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients.
Disease Ontology Description An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
Mondo Term and Equivalent IDs
MONDO:0009794:  orofaciodigital syndrome IV
GARD:0000816: 
MESH:C537133: 
Orphanet:2753: 
SCTID:239031000: 
UMLS:C0406727: