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Osteoporosis-oculocutaneous hypopigmentation syndrome

rare

Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.

Identifiers
MONDO:0011020 OMIM:601220Orphanet:2786
Part of
Hereditary diseaseMusculoskeletal system disorder
Also known as
Hernández-Fragoso syndrome · OOCH · OOCH syndrome · OOCHS · osteoporosis and oculocutaneous hypopigmentation syndrome

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