Catel–Manzke syndrome
Catel–Manzke syndrome | |
---|---|
Other names | Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome |
Catel–Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; occasionally with additional physical findings.
Signs and symptoms
The clinical presentation of this condition is consistent with the following (among others):[1]
- Highly arched eyebrow
- Joint stiffness
- Scoliosis
- Short stature
Diagnosis
Prevalence
Currently there are only around 26 people in the world that are known to have this rare condition. Inheritance is thought to be X-linked recessive.[2]
References
- ↑ "Catel Manzke syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 30 August 2021.
- ↑ Online Mendelian Inheritance in Man (OMIM): 302380
External links
This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.