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Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma (see this term), hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis (see this term).
To date, 4 cases have been described in the literature.
Abruzzo-Erikson syndrome is a congenital disorder characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Additional features include ear malformation, a wide gap between the second and third metacarpals, ulnar deviation, facial asymmetry, dental abnormalities and congenital heart malformation (such as interauricular communication (see this term)). These manifestations overlap with those of CHARGE syndrome (see this term), however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability nor choanal atresia (see this term) or genital hypoplasia.
The complete etiology of Abruzzo-Erikson syndrome is still unknown but the recent identification of a novel mutation in the gene TBX22 (Xq21.1) (a gene known to cause X-linked cleft palate and ankyloglossia (CPX; see this term)) co-segregating in the family strongly indicates that it is a mutation partially responsible for the phenotypic variation.
Abruzzo-Erikson syndrome is inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring.