Acrocephalosyndactyly
Acrocephalosyndactyly: An inherited disorder causing abnormalities of the skull and face and the hands and feet.
In acrocephalosyndactyly there is closure too-early of some of the sutures of the skull (craniosynostosis). This results in an abnormally shaped head, which is unusually tall and peaked, and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes.
Surgery is often useful to correct the abnormalities of the skull, face, hands and feet.
Acrocephalosyndactyly is an autosomal dominant trait with boys and girls affected equally. A affected parent can have transmit the gene for the disorder or both parents can be normal with the disorder appearing in the child due to a new mutation.
The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are dominant traits.
Read Also:
- Acrochordon
Acrochordon: A small tag of skin that may have a stalk (a peduncle). An acrochordon may appear on skin anywhere although the favorite locales are the eyelids, neck, armpits (axillae), upper chest, and groin. Invariably benign, this tiny tumor of the skin usually causes no symptoms unless repeatedly irritated as, for example, by the collar. […]
- Acrocyanosis
Acrocyanosis: Blueness of the hands and feet, usually due to inadequate circulation.
- Acromegaly
Acromegaly: Condition due to the production of too much growth hormone by the pituitary gland after the end of adolescence. When there is secretion of too much growth hormone before the end of adolescence, gigantism results. People with pituitary gigantism can truly be giants; they can sometimes end up over 7 or 8 feet in […]
- Acromioclavicular joint
Acromioclavicular joint: A gliding joint located between the acromion (a projection of the scapula that forms the point of the shoulder) and the clavicle (the collar bone). It is served and supported by the capsular, superior, and inferior acromioclavicular ligaments; the articular disk; and the coracoclavicular (trapezoid and conoid) ligaments. Abbreviated AC joint.
- Acromion
Acromion: The projection of the scapula (the shoulder blade) that forms the point of the shoulder. The acromion is part of the scapula. It protrudes laterally (away from the midline) and is triangular in shape. The top of the shoulder is acromial. The word “acromion” comes from the Greek “akron”, peak + “omos”, shoulder = […]