Catel-Manzke syndrome
Encyclopedia
Catel-Manzke syndrome is a rare genetic disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....

 characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome
Pierre Robin syndrome
Pierre Robin Sequence , also known as Pierre Robin Malformation, is a congenital condition of facial abnormalities in humans. PRS is a sequence: a chain of certain developmental malformations, one entailing the next...

; occasionally with additional physical findings. Pierre Robin syndrome
Pierre Robin syndrome
Pierre Robin Sequence , also known as Pierre Robin Malformation, is a congenital condition of facial abnormalities in humans. PRS is a sequence: a chain of certain developmental malformations, one entailing the next...

 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
Jaw
The jaw is any opposable articulated structure at the entrance of the mouth, typically used for grasping and manipulating food. The term jaws is also broadly applied to the whole of the structures constituting the vault of the mouth and serving to open and close it and is part of the body plan of...

 (Micrognathia), downward displacement or retraction of the tongue
Tongue
The tongue is a muscular hydrostat on the floors of the mouths of most vertebrates which manipulates food for mastication. It is the primary organ of taste , as much of the upper surface of the tongue is covered in papillae and taste buds. It is sensitive and kept moist by saliva, and is richly...

 (Glossoptosis
Glossoptosis
Glossoptosis is a medical condition and abnormality which refers to the downward displacement or retraction of the tongue.It is one of the features of Pierre Robin Sequence and Down Syndrome....

), 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
Bone
Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...

 within the body of the hand (second metacarpal). As a result, the index fingers may be fixed in an abnormally bent position (clinodactyly
Clinodactyly
-References:...

). In some rare cases, additional abnormalities of the hands may also be present. Due to the presence of micrognathia, glossoptosis
Glossoptosis
Glossoptosis is a medical condition and abnormality which refers to the downward displacement or retraction of the tongue.It is one of the features of Pierre Robin Sequence and Down Syndrome....

, and cleft palate, affected infants may have feeding and breathing difficulties; growth deficiency; consistent middle ear infections (otitis media
Otitis media
Otitis media is inflammation of the middle ear, or a middle ear infection.It occurs in the area between the tympanic membrane and the inner ear, including a duct known as the eustachian tube. It is one of the two categories of ear inflammation that can underlie what is commonly called an earache,...

); and other complications.

In addition, some infants with the syndrome may have structural abnormalities of the heart
Heart
The heart is a myogenic muscular organ found in all animals with a circulatory system , that is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions...

 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
Sex linkage
Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual. This mode of inheritance is in contrast to the inheritance of traits on autosomal chromosomes, where both sexes have the same probability of inheritance...

 recessive.
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