Preferred Label : Verloes-David syndrome;
ICD-11 definition : Mesomelia-synostoses syndrome is 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.;
ICD-11 synonym : Mesomelia-synostoses syndrome; 8q13 deletion; Monosomy 8q13; Mesomelia - synostoses;
Origin ID : 2078019214;
UMLS CUI : C1838162;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Mesomelia-synostoses syndrome is 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.
