Catel–Manzke syndrome

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search

Template:Infobox medical condition (new) 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):[1]

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

Diagnosis

Script error: No such module "Unsubst".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.[2]

References

<templatestyles src="Reflist/styles.css" />

  1. Script error: No such module "citation/CS1".
  2. Online Mendelian Inheritance in Man (OMIM): 302380

Script error: No such module "Check for unknown parameters".

External links

Template:Medical resources Script error: No such module "Navbox".