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Abruzzo-Erickson syndrome
1 OMIM reference -
1 associated gene
8 connected diseases
25 signs/symptoms
Disease Type of connection
X-linked cleft palate and ankyloglossia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Cleft palate - coloboma - deafness
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
1 MeSH reference: C535559
Gene symbol UniProt reference OMIM reference
TBX22 Q9Y458300307
Very frequent
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Flat face
- Hypospadias / epispadias / bent penis
- Long / large ear

Frequent
- Autosomal dominant inheritance
- Coloboma of iris
- High vaulted / narrow palate
- Radioulnar synostosis
- Retinoschisis / retinal / chorioretinal coloboma
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Ulnar deviation of fingers
- X-linked recessive inheritance

Occasional
- Atrial septal defect / interauricular communication
- Conductive deafness / hearing loss
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- Grooved / dimple chin
- Microcornea
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Syndactyly of toes
- Tooth shape anomaly
- Undescended / ectopic testes / cryptorchidia / unfixed testes