lymphedema-atrial septal defects-facial changes syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0019175
primary lymphedema
is_a
Irons Bhan syndrome
related
Irons-Bhan syndrome
exact
Irons-Bianchi syndrome
exact
autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes
related
lymphedema, atrial septal defect, and characteristic facial changes
related