Search for a rare disease
Other search option(s)
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.
ORPHA:921Classification level: Disorder
To date, 4 cases from a single family have been described in the literature.
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.
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.
Diagnosis is based upon clinical observations. Genetic and molecular testing allow to complete the diagnosis.
Differential diagnosis include CHARGE syndrome.
Antenatal diagnosis is theoretically possible by DNA analysis of fetal cells in maternal blood.
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.
Life expectancy seems normal based on long-term observations of three affected individuals in the family.
A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019) Russian (2019, pdf) Hebrew (2021, pdf)