The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009).
Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232). [from OMIM]
- MedGen UID:
- 324959
- •Concept ID:
- C1838162
- •
- Disease or Syndrome
- GTR
- ClinVar
- Genes
- OMIM
- GeneReviews