Boomerang dysplasia
Findings
No curated finding names Boomerang dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
Definition from the Mondo Disease Ontology (MONDO:0007208), read 2026-09-29. CC BY 4.0.
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.
- Abnormal bone ossificationHPOHP:0011849
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Very frequent (80% to 99% of cases)
- Abnormally ossified vertebraeHPOHP:0100569
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the fibulaHPOHP:0006492
- Very frequent (80% to 99% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- Poorly ossified vertebraeHPOHP:0100856
- Very frequent (80% to 99% of cases)
- Severe short-limb dwarfismHPOHP:0008890
- Very frequent (80% to 99% of cases)
- Abnormal femur morphologyHPOHP:0002823
- Frequent (30% to 79% of cases)
- Abnormal humerus morphologyHPOHP:0031095
- Frequent (30% to 79% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
Show the remaining 9
- Abnormal morphology of the radiusHPOHP:0002818
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- Hydrops fetalisHPOHP:0001789
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FLNBHGNC:3755
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021