atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Findings
No curated finding names atrioventricular defect-blepharophimosis-radial and anal defect syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
Definition from the Mondo Disease Ontology (MONDO:0010825), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cardiac septum morphologyHPOHP:0001671
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Ocular albinismHPOHP:0001107
- Very frequent (80% to 99% of cases)
- Abnormality of the genitourinary systemHPOHP:0000119
- Frequent (30% to 79% of cases)
Show the remaining 10
- Cupped earHPOHP:0000378
- Frequent (30% to 79% of cases)
- Hearing abnormalityHPOHP:0000364
- Frequent (30% to 79% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- MicrophthalmiaHPOHP:0000568
- Frequent (30% to 79% of cases)
- MicrotiaHPOHP:0008551
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Also called
- Houlston-Ironton-Temple syndrome