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Autosomal recessive cutis laxa type 2B

Disease definition

A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

ORPHA:357064

Classification level: Disorder
  • Synonym(s):
    • ARCL2, progeroid type
    • ARCL2B
    • Autosomal recessive cutis laxa type 2, progeroid type
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: Q82.8
  • OMIM: 612940
  • UMLS: C2751987
  • MeSH: -
  • GARD: 1641
  • MedDRA: -

Additional information

Further information on this disease

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