Heart defects-limb shortening syndrome

Orpha code: 1354OMIM code: 212135

Definicja

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
Klasyfikacja

Malformation syndrome

Kod ORPHA
1354
Kod OMIM
212135
Kod ICD10
Q87.2
Kod ICD11
-

No additional description.

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