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Keipert syndrome

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Description

Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid's bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • X-linked recessive inheritance

VARIANTS

3

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Genes

External Links

  • OMIM

    301026

  • Orphanet

    2662

  • HPO
  • Medgen

    C1850627

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