Disease & disorder

spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

MONDO:0008469

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.

Outbreak surveillance

Global reported events

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Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms1
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Background context

spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Wikidata Q55781503 ↗
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.