Heart defects-limb shortening syndrome

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.

Disease data

Classification

Malformation syndrome

ORPHA code

1354

OMIM code

212135

ICD10 code

Q87.2

ICD11 code

*Soruce