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Juberg-Hayward syndrome

Orpha number ORPHA2319
Synonym(s) Cleft lip/palate - abnormal thumbs - microcephaly
Orocraniodigital syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS -
MeSH
  • C537690
MedDRA -
SNOMED CT -

Summary

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.


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