Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
ORPHA:168443· ICD-10 Q77.7
Definition
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. There have been no further description in the literature since 1990.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal