GAPO syndrome
GAPO Syndrome
GAPO syndrome (pronounced: /ˈɡeɪpoʊ/), is a rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy. The name GAPO is an acronym derived from the main features of the syndrome: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy.
Etymology
The term "GAPO" is an acronym that was first used in 1988 by Tipton and Gorlin who described the syndrome in detail. The acronym stands for the four main features of the syndrome: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy.
Symptoms and Signs
The main features of GAPO syndrome include:
- Growth retardation: Affected individuals often have a low birth weight and fail to grow at the expected rate, resulting in short stature.
- Alopecia: This refers to hair loss, which typically begins in early childhood and progresses to total alopecia by adolescence.
- Pseudoanodontia: This term refers to the apparent absence of teeth, which is due to delayed tooth eruption and early tooth loss.
- Optic atrophy: This is a condition that affects the optic nerves, leading to vision loss.
Causes
GAPO syndrome is caused by mutations in the ANTXR1 gene. This gene provides instructions for making a protein that is involved in the development of blood vessels and the extracellular matrix, which provides structural support to tissues and organs.
Diagnosis
Diagnosis of GAPO syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for GAPO syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and regular eye exams.
See Also
External links
- Medical encyclopedia article on GAPO syndrome
- Wikipedia's article - GAPO syndrome
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