Catel Manzke syndrome

Term ID

DOID:0081122

Synonyms

• Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
• Micrognathia digital 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/

References

• GARD:28
• MESH:C535347
• MIM:616145
• ORDO:1388

Ontology

Human Disease   ( DOID:0081122 )