Osteoporosis-oculocutaneous hypopigmentation syndrome

Orpha code: 2786OMIM code: 601220

Definition

A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.

Disease data
Classification

Malformation syndrome

Synonyms
Hernández-Fragoso syndrome
OOCHS
Zespół Hernandeza i Fragoso
OOCHS
ORPHA code
2786
OMIM code
601220
ICD10 code
Q87.5
ICD11 code
LD24.KY

No additional description.

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