Keipert syndrome
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Sign InDescription
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).
Mode of Inheritance
- Autosomal dominant inheritance
- X-linked recessive inheritance
VARIANTS
3