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CLAPO syndrome

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Description

A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalised overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalised in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known.

SNOMEDCT_US

  • Mode of Inheritance

  • Somatic mutation

VARIANTS

8

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Genes

External Links

  • OMIM

    613089

  • Orphanet

    168984

  • HPO
  • Medgen

    C2751313

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