| Metadata | |
|---|---|
| ID | DOID:0081122 |
| Name | Catel Manzke syndrome |
| Definition | A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. https://pubmed.ncbi.nlm.nih.gov/18501694/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome [EXACT] Micrognathia digital syndrome [EXACT] |
| Parent Relationships |
is_a bone disease |