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.

Catel–Manzke syndrome
Other names	Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome

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

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

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

External links