/lymphedema-atrial septal defects-facial changes syndrome

lymphedema-atrial septal defects-facial changes syndrome

Rare Disease

MONDO:0011166

Also Known As

Irons-Bhan syndromeIrons-Bianchi syndromeIrons Bhan syndromeautosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changeslymphedema, CARDIAC septal defects, and characteristic facieslymphedema, atrial septal defect, and characteristic facial changeslymphedema, atrial septal defect, and characteristic facies

Definition

Lymphedema-atrial septal defects-facial changes syndrome is characterized 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.