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.
| Catel–Manzke syndrome | |
|---|---|
| Other names | Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome |
Signs and symptoms
editThe clinical presentation of this condition is consistent with the following (among others):[1]
- Highly arched eyebrow
- Joint stiffness
- Scoliosis
- Short stature
Diagnosis
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Genetic Testing
Prevalence
editCurrently 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
edit- ^ "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