lymphedema-atrial septal defects-facial changes syndrome
Findings
No curated finding names lymphedema-atrial septal defects-facial changes syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011166), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
2 names
Resolves to: lymphedema-atrial septal defects-facial changes syndrome
- Also called
- Irons-Bhan syndromeIrons-Bianchi syndrome