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. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (Micrognathia), downward displacement or retraction of the tongue (Glossoptosis), and incomplete closure of the roof of the mouth (Cleft palate). It is also linked to Hyper Mobility Syndrome.

Presentation

Infants with Catel–Manzke syndrome have an extra (supernumerary), irregularly shaped bone known as a Hyperphalangy located between the first bone of the index finger (proximal phalanx) and the corresponding bone within the body of the hand (second metacarpal). As a result, the index fingers may be fixed in an abnormally bent position (clinodactyly). In some rare cases, additional abnormalities of the hands may also be present. Due to the presence of micrognathia, glossoptosis, and cleft palate, affected infants may have feeding and breathing difficulties; growth deficiency; consistent middle ear infections (otitis media); and other complications.

In addition, some infants with the syndrome may have structural abnormalities of the heart that are present at birth (congenital heart defects). The range and severity of symptoms and findings may vary from case to case. Catel–Manzke syndrome usually appears to occur randomly, for unknown sporadic reasons.

Genetic 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.^[1]

References