Familial osteodysplasia, Anderson type

Orpha code: 2769OMIM code: 259250

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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