Acrodysplasia scoliosis
ORPHA:2956· ICD-10 Q87.5
Definition
A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal