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Catel–Manzke syndrome
Catel–Manzke syndrome
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Catel–Manzke syndrome | |
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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):
- 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.
External links
Classification | |
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External resources |
Congenital abnormality syndromes
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Craniofacial | |
Short stature | |
Limbs | |
Overgrowth syndromes | |
Laurence–Moon–Bardet–Biedl | |
Combined/other, known locus |