Lymphedema-atrial septal defects-facial changes syndrome

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Advocacy Organizations

Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)

As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery

Project FAVA

Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.

Clinical Trials

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