Lymphedema-atrial septal defects-facial changes syndrome
Lymphedema-atrial septal defects-facial changes syndrome
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.
Also known as Irons-Bhan syndrome, Irons-Bianchi syndrome — per MONDO