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.
Synonyms
- CHARGE-like syndrome
- Cleft palate-coloboma-deafness syndrome
- Cleft palate-coloboma-hearing loss syndrome
Incidence
How common is Abruzzo Erickson syndrome?
<1 / 1000000
To date, 4 cases from a single family have been described in the literature.
Inheritance
X-linked recessive
Age of Onset
Antenatal
What causes this condition?
- 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.
What are the Symptoms of Abruzzo Erickson syndrome?
- 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.
Very Common Symptoms
- Cleft palate
- Coronal hypospadias
- Flat face
- Hypospadias
- Macrotia
- Malar flattening
Common Symptoms
- Abnormal palate morphology
- Chorioretinal coloboma
- Coloboma
- Iris coloboma
- Radioulnar synostosis
- Sensorineural hearing impairment
- Short stature
- Ulnar deviation of finger
Occasional Symptoms
- Abnormal localization of kidney
- Atrial septal defect
- Brachydactyly
- Chin dimple
- Conductive hearing impairment
- Cryptorchidism
- Epicanthus
- Microcornea
- Short toe
- Toe syndactyly
How is this condition is diagnosed?
- 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 theoretically 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.
How is Abruzzo Erickson syndrome treated?
Correction of some abnormalities require extensive multidisciplinary craniofacial surgery.
What is the Prognosis?
Life expectancy seems normal based on long-term observations of three affected individuals in the family.
