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Catel–Manzke syndrome

Catel–Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; occasionally with additional physical findings.

Signs and symptoms

The clinical presentation of this condition is consistent with the following (among others):

  • Highly arched eyebrow
  • Joint stiffness
  • Scoliosis
  • Short stature

Diagnosis

Genetic Testing.

Prevalence

Currently there are only around 26 people in the world that are known to have this rare condition. Inheritance is thought to be X-linked recessive.

References

External links