mesomelia-synostoses syndrome
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.
MONDO:0019696
acromesomelic dysplasia
excluded_subClassOf
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0016907
partial deletion of the long arm of chromosome 8
is_a
8q13 microdeletion syndrome
exact
Del(8)q(13)
exact
Verloes-David syndrome
exact
dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis
related
mesomelia synostoses
related
mesomelia-synostoses syndrome
exact
mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
exact
mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
exact
monosomy 8q13
exact