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Craniofacial conodysplasia
Disease definition
Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.
ORPHA:85168
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: No data available
- ICD-10: Q87.5
- OMIM: -
- UMLS: C4303862
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)
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