Bockenheimer syndrome
MONDO:0016311Mondo
Findings
No curated finding names Bockenheimer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
21 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.
- Abnormality of limbsHPOHP:0040064
- Very frequent (80% to 99% of cases)
- Aplasia/hypoplasia involving bones of the upper limbsHPOHP:0006496
- Very frequent (80% to 99% of cases)
- Asymmetric growthHPOHP:0100555
- Very frequent (80% to 99% of cases)
- Capillary malformationHPOHP:0025104
- Very frequent (80% to 99% of cases)
- HemihypertrophyHPOHP:0001528
- Very frequent (80% to 99% of cases)
- Prominent superficial veinsHPOHP:0001015
- Very frequent (80% to 99% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Very frequent (80% to 99% of cases)
- Venous malformationHPOHP:0012721
- Very frequent (80% to 99% of cases)
- Abnormal muscle physiologyHPOHP:0011804
- Frequent (30% to 79% of cases)
- Abnormal trabecular bone morphologyHPOHP:0100671
- Frequent (30% to 79% of cases)
- EdemaHPOHP:0000969
- Frequent (30% to 79% of cases)
- Hypertrophy of the upper limbHPOHP:0010484
- Frequent (30% to 79% of cases)
Show the remaining 9
- Hypoplasia of the radiusHPOHP:0002984
- Frequent (30% to 79% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Frequent (30% to 79% of cases)
- Short humerusHPOHP:0005792
- Frequent (30% to 79% of cases)
- Thin bony cortexHPOHP:0002753
- Frequent (30% to 79% of cases)
- Venous thrombosisHPOHP:0004936
- Frequent (30% to 79% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Bockenheimer syndrome
- Also called
- genuine diffuse phlebectasia