Familial osteodysplasia, Anderson type

Orpha code: 2769OMIM code: 259250

Definition

Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.

Disease data
Classification

Malformation syndrome

ORPHA code
2769
OMIM code
259250
ICD10 code
Q87.5
ICD11 code
LD25.3

No additional description.

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