mesomelia-synostoses syndrome
Findings
No curated finding names mesomelia-synostoses syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
Definition from the Mondo Disease Ontology (MONDO:0010881), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
53 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.
- Absent uvulaHPOHP:0010292
- 5 of 5 reported patients
- Carpometacarpal synostosisHPOHP:0100328
- 5 of 5 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Hypernasal speechHPOHP:0001611
- 5 of 5 reported patients
- MesomeliaHPOHP:0003027
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 41
- Tibial bowingHPOHP:0002982
- 5 of 5 reported patients
- Ulnar deviation of the handHPOHP:0009487
- 5 of 5 reported patients
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Abnormal humerus morphologyHPOHP:0031095
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Very frequent (80% to 99% of cases)
Where it sits
Other names
6 names
Resolves to: mesomelia-synostoses syndrome
- Also called
- 8q13 microdeletion syndromeDel(8)q(13)mesomelia-synostoses syndrome, Verloes-David-Pfeiffer typemesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer typemonosomy 8q13Verloes-David syndrome