spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
MONDO:0008469Mondo
Findings
No curated finding names spondyloepimetaphyseal dysplasia-hypotrichosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare primary bone dysplasia disorder 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.
Definition from the Mondo Disease Ontology (MONDO:0008469), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of