Catel–Manzke syndrome explained

Synonyms:	Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
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):^[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.

Notes and References

1. Web site: Catel Manzke syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 30 August 2021.