Cutis laxa-Marfanoid syndrome

Orpha code: 171719OMIM code: 614100

Definition

A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.

Disease data
Classification

Malformation syndrome

ORPHA code
171719
OMIM code
614100
ICD10 code
Q87.8
ICD11 code
LD28.2

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl