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Ballard syndrome

Orpha number ORPHA93395
Synonym(s) Brachydactyly types B and E combined
Pitt-Williams brachydactyly
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q73.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant.


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