Lymphedema-atrial septal defects-facial changes syndrome

Orpha code: 86915OMIM code: 601927

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Irons-Bhan syndrome
Zespół Ironsa i Bianchi
Irons-Bianchi syndrome
ORPHA code
86915
OMIM code
601927
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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