Mesomelia dysplasia type Verloes-David-Pfeiffer
The type Verloes-David-Pfeiffer of mesomelen dysplasia, also called mesomelia synostosis syndrome (MSS), is caused by a contiguous gene deletion. Significant symptoms include advanced flexion of the forearms and thighs.
Additional symptoms include mesomelia, fusion of the metacarpal bones with the proximal phalanges, progressive intracarineal or intratarsal bone fusion, ptosis, abnormal soft palate, hypertolerance, congenital heart disease, and urethral anomaly.
The type Verloes-David-Pfeiffer manifests only after birth and progresses to adulthood, related to bone growth, only slightly. The cause of the syndrome is a microdeletion in 8q13.
The type Verloes-David-Pfeiffer of mesomelen dysplasia, also called mesomelia synostosis syndrome (MSS), is caused by a contiguous gene deletion. Significant symptoms include advanced bending of the forearms and thighs. Additional malignancies include mesomelia, fusion of the metacarpal bones with the proximal phalanges, progressive intracarral or intratarsal bone fusion, ptosis, abnormal soft palate, hypertolerance, congenital heart disease, and urethral anomaly.
The type Verloes-David-Pfeiffer manifests only after birth and progresses to adulthood, along with bone growth, only slightly. The cause of the syndrome is a microdeletion in 8q13.