Catel-Manzke syndrome

Catel-Manzke syndrome is a rare disorder that affects bone development. People with this condition show characteristic changes in the fingers and face. In particular, the syndrome is marked by bilateral hyperphalangy (extra bone segments) and clinodactyly (curved fingers) of the index finger. In addition to these bone abnormalities, Catel-Manzke syndrome is often associated with the Pierre Robin sequence. This means that affected individuals may have a smaller lower jaw (micrognathia), a cleft palate, and glossoptosis (a tongue that is positioned further back than normal). These features can affect feeding and breathing in infancy. Overall, the condition combines distinct skeletal features with orofacial differences.

The common symptoms of Catel-Manzke syndrome include abnormalities of the index finger, such as extra bone segments (hyperphalangy) and a curvature (clinodactyly). There is also the association with the Pierre Robin sequence, which includes a small lower jaw, cleft palate, and issues with tongue positioning (glossoptosis). These signs are the main features seen in affected individuals.

Catel-Manzke syndrome is caused by changes in a gene known as TGDS. This genetic alteration leads to the abnormal bone development seen in the condition. While the precise pattern of inheritance is not fully detailed in the provided information, the link with the TGDS gene suggests that it is a genetic disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.