Orphanet: Symphalangism with multiple anomalies of hands and feet
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Symphalangism with multiple anomalies of hands and feet

Disease definition

Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.

ORPHA:3246

Classification level: Disorder
  • Synonym(s):
    • Learman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q74.8
  • OMIM: 185750
  • UMLS: C1861391
  • MeSH: -
  • GARD: 5077
  • MedDRA: -
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