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Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Disease definition

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.

ORPHA:1112

  • Synonym(s):
    • Johnson-Munson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 207620
  • UMLS: C1859754
  • MeSH: C535881
  • GARD: 3051
  • MedDRA: -
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