Short stature, Brussels type

Orpha code: 2867OMIM code: 601350

Definition

A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.

Disease data
Classification

Malformation syndrome

Synonyms
Mievis-Verellen-Dumoulin syndrome
Zespół Mievisa, Verellena i Dumoulina
ORPHA code
2867
OMIM code
601350
ICD10 code
Q87.1
ICD11 code
LD24.2Y

No additional description.

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