familial osteodysplasia, Anderson type
Findings
No curated finding names familial osteodysplasia, Anderson type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009801), read 2026-09-29. CC BY 4.0.
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
- Abnormal earlobe morphologyHPOHP:0000363
- Very frequent (80% to 99% of cases)
- Abnormal midface morphologyHPOHP:0000309
- Very frequent (80% to 99% of cases)
- Abnormal zygomatic bone morphologyHPOHP:0010668
- Very frequent (80% to 99% of cases)
- Aplasia/hypoplasia of the femurHPOHP:0005613
- Very frequent (80% to 99% of cases)
- Aplastic clavicleHPOHP:0006660
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Increased susceptibility to fracturesHPOHP:0002659
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
- Large earlobeHPOHP:0009748
- Very frequent (80% to 99% of cases)
- Long noseHPOHP:0003189
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)