You are using an outdated browser. Please upgrade your browser to improve your experience.

lymphedema-atrial septal defects-facial changes syndrome

Disease Summary
Associated Targets ()

Mondo Description Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0011166:  lymphedema-atrial septal defects-facial changes syndrome
GARD:0000284: 
MESH:C535539: 
MESH:C567398: 
Orphanet:86915: 
SCTID:721978002: