Pelviscapular dysplasia
ORPHA:93333· ICD-10 Q87.5
Definition
A rare dysostosis characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, short stature and craniofacial abnormalities. Facial dysmorphism is characterized by macrocephaly with frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and low hairline.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal