Lymphedema-atrial septal defects-facial changes syndrome
Synonyms: Irons-Bhan syndrome | Irons-Bianchi syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Lymphedema-atrial septal defects-facial changes syndrome?
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