Catel–Manzke syndrome is a rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

characterized by distinctive abnormalities of the index fingers; the classic features of

Pierre Robin syndrome Pierre Robin sequence (; abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities. The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displac ...

; 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

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 In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

References

External links

{{DEFAULTSORT:Catel-Manzke syndrome Syndromes affecting the tongue Genetic disorders with OMIM but no gene Skeletal disorders Syndromes affecting the jaw Syndromes with cleft lip and/or palate Syndromes with dysmelia