Autozomálně recesivní
Caused by changes in both copies of ANTXR1, which encodes a cell-surface receptor involved in handling the extracellular matrix. Its loss leads to build-up of matrix material in tissues.
Příznaky a projevy
Short stature and slow growth, sparse or absent hair, and teeth that form but do not erupt. Craniofacial differences, including widely spaced eyes and craniosynostosis, have been reported. Progressive optic atrophy is a main feature, and glaucoma can affect vision; some develop heart or blood vessel problems.
Co se diagnózou změní
Care involves dental, eye and growth follow-up, with regular eye pressure checks. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.
Analyzované geny
Známé také jako
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome; Growth retardation, alopecia, pseudoanodontia and optic atrophy
