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Abruzzo-Erickson syndrome
rareAbruzzo-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.
- Identifiers
- MONDO:0010554 OMIM:302905Orphanet:921
- Causal genes
- TBX22
- Part of
- Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- ABERS · CHARGE like syndrome X-linked · CHARGE-like syndrome · cleft palate-coloboma-deafness syndrome
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