Otofaciocervical syndrome
Medical condition
From Wikipedia, the free encyclopedia
Otofaciocervical syndrome, also known as Fara Chlupackova syndrome,[1] are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature.[2]
| Otofaciocervical syndrome | |
|---|---|
| Other names | Fars Chlupackova syndrome |
| |
| Specialty | Medical genetics |
| Causes | Genetic mutation |
| Risk factors | Depends on the type |
| Prevention | None |
| Prognosis | Bad, nearing medium |
| Frequency | Very rare, a total of 24 cases (from both types combined) have been reported worldwide. |
| Deaths | - |
Types
There are two types of OFC:
Otofaciocervical syndrome type 1
It is characterized by facial dysmorphisms, low-set cup-shaped ears, preauricular sinus or cyst, hearing loss, branchial and skeletal anomalies, low-set clavicle bones, winged scapulae, sloping shoulders and mild intellectual disabilities. It is caused by autosomal dominant mutations in the EYA1 gene in chromosome 8.[3] Only 11 cases have been reported in medical literature.[4][5][6][7]
Otofaciocervical syndrome type 2
It is characterized by the same symptoms in type 1, this disorder is different from type 1 because of its genetic cause and because of its additional features: thymus development alterations with T-cell immunodeficiency and recurrent infections which may turn fatal. It is caused by autosomal recessive mutations in the PAX1 gene in chromosome 20.[8] Only 13 cases have been described in medical literature.[9][10][11][12]