hands and feet broad

低身長, 短い手足, 限られた腕の動き

低身長, 心雑音, heart defect, heart murmur systolic

Ellis-van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia) is a rare genetic disorder of the skeletal dysplasia type.It involves numerous anomalies including post-axial polydactyly, congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals), pre-natal tooth eruption, fingernail dysplasia, short-limbed dwarfism, short ribs, partial hare-lip, and malformation of the wrist bones (fusion of the hamate and capitate bones).