Apert syndrome acrocephalosyndactyly
Apert syndrome acrocephalosyndactyly: An inherited disorder causing abnormalities of the skull, face and hands and feet.
There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from front-to-back) 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 with the skull, face, hands and feet.
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:
- Apex
Apex: The Latin word for summit, the apex is the tip of a pyramidal or rounded structure, such as the lung or the heart. The apex of the lung is indeed its tip’its rounded most superior portion. The apex of the heart is likewise its tip, but it is formed by the left ventricle, so […]
- Apgar
Apgar: Abbreviation for the Apgar score, a practical method of evaluating the physical condition of a newborn infant shortly after delivery. The Apgar score is a number arrived at by scoring the heart rate, respiratory effort, muscle tone, skin color, and response to a catheter in the nostril. Each of these objective signs can receive […]
- Apgar score
An objective score of the condition of a baby after birth. This score is determined by scoring the heart rate, respiratory effort, muscle tone, skin color, and response to a catheter in the nostril. Each of these objective signs receives 0, 1, or 2 points. An Apgar score of 10 means an infant is in […]
- Aphakia
Aphakia: Absence or loss of the eye’s natural crystalline lens, as after cataract removal. From a-, without + phacos, the Greek word for a lentil bean. The ancients thought (quite correctly) that the lens of the eye was shaped like a lentil bean.
- Aphasia
Literally, no speech. Aphasia may also be used to describe defects in spoken expression or comprehension of speech.