Abruzzo-Erickson Syndrome

An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

Epidemiology

To date, 4 cases have been described in the literature.

Clinical description

Abruzzo-Erickson 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). These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome; patients with Abruzzo-Erickson syndrome do not show intellectual disability nor choanal atresia or genital hypoplasia.

Etiology

The complete etiology of Abruzzo-Erickson 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) co-segregating in the family strongly indicates that it is a mutation partially responsible for the phenotypic variation.

Diagnostic methods

Diagnosis is based upon clinical observations. Genetic and molecular testing allow to complete the diagnosis.

Differential diagnosis

Differential diagnosis include CHARGE syndrome.

Antenatal diagnosis

Antenatal diagnosis is possible by DNA analysis of fetal cells in maternal blood.

Genetic counseling

Abruzzo-Erickson syndrome is inherited in an X-linked recessive manner, with a carrier female having a 50 % risk of transmitting the mutation to her offspring.

Management and treatment

Correction of some abnormalities require extensive multidisciplinary craniofacial surgery.

Prognosis

Life expectancy seems normal based on long-term observations of three affected individuals in the family.