Abruzzo-Erickson syndrome
Findings
No curated finding names Abruzzo-Erickson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
Definition from the Mondo Disease Ontology (MONDO:0010554), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Coronal hypospadiasHPOHP:0008743
- Very frequent (80% to 99% of cases)
- Flat faceHPOHP:0012368
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Frequent (30% to 79% of cases)
- Chorioretinal colobomaHPOHP:0000567
- Frequent (30% to 79% of cases)
- ColobomaHPOHP:0000589
- Frequent (30% to 79% of cases)
- Iris colobomaHPOHP:0000612
- Frequent (30% to 79% of cases)
- Radioulnar synostosisHPOHP:0002974
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
Show the remaining 12
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Frequent (30% to 79% of cases)
- Abnormal localization of kidneyHPOHP:0100542
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBX22HGNC:11600
- Supportive · Orphanet · X-linked · 2021
- Limited · G2P · X-linked · 2025
Where it sits
Other names
3 names
Resolves to: Abruzzo-Erickson syndrome
- Also called
- ABERSCHARGE-like syndromecleft palate-coloboma-deafness syndrome