GAPO syndrome

GAPO syndrome
Classification and external resources
OMIM 230740

GAPO syndrome is a rare, autosomal recessive genetic disorder.[1] GAPO is an acronym for growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy.

Genetics

GAPO syndrome has an autosomal recessive pattern of inheritance.

GAPO syndrome is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

  1. 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 230740

External links