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Camptodactyly syndrome, Guadalajara type 2

Orpha number ORPHA1326
Prevalence of rare diseases Exceptional
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code
  • Q79.8
MIM number
Synonym(s) -

Summary

Camptodactyly syndrome, Guadalajara type 2 is characterised by intrauterine growth retardation, dwarfism, camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, patella hypoplasia, short neck, low-set ears, microcephaly, and cuboid vertebral bodies. It has been described in only two sisters (aged 6 and 3 years). The mode of inheritance appears to be autosomal recessive. *Author: Orphanet (May 2004)*.

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