GAPO syndrome

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GAPO syndrome2016-11-25T21:11:38+00:00

GAPO syndrome

PAEDIATRICS

Definition An autosomal recessive (OMIM:230740) condition characterised by the acronym GAPO:

Growth retardation

Alopecia

Pseudoanodontia–teeth are present but unerupted, and

Optic atrophy, often in a background of parental consanguinity, variably accompanied by hydrocephalus, high palate, low-set ears.

Molecular pathology Defects of ANTXR1, which encodes a transmembrane protein that plays a role in cell attachment and migration, cause GAPO syndrome. 

References http://www.uniprot.org/uniprot/Q9H6X2

http://www.omim.org/entry/230740 

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