Medicine:Catel–Manzke syndrome
From HandWiki
| 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
External links
| Classification | |
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| External resources |
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