Catel–Manzke_syndrome

Catel–Manzke syndrome

Catel–Manzke syndrome

Medical condition

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.

Quick Facts Other names ...

Signs and symptoms

The clinical presentation of this condition is consistent with the following (among others):[1]

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

Diagnosis

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.[2]

References

  1. [1]
    "Catel Manzke syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 30 August 2021.
  2. [2]
    Online Mendelian Inheritance in Man (OMIM): 302380
Share this article:

This article uses material from the Wikipedia article Catel–Manzke_syndrome, and is written by contributors. Text is available under a CC BY-SA 4.0 International License; additional terms may apply. Images, videos and audio are available under their respective licenses.