Coffin Siris syndrome

Coffin–Siris syndrome is a very rare congenital genetically determined disorder. It manifests with impairment of both physical and intellectual development. Only several dozen cases have been documented worldwide, and females are affected more frequently.

Causes

The cause of the syndrome is presumably a genetic mutation; however, the specific affected gene is not yet known.

Manifestations

Affected children have low birth weight and do not reach the height of their peers. Deformities of the fingers of both the upper and lower limbs occur; a characteristic feature is a shortened fifth finger with an underdeveloped or completely absent nail. In some cases, the fifth finger may be completely absent. 

Intellectual functioning is impaired, and intellectual disability of varying severity is usually present. Certain facial features are also observed, including a broad nose and mouth and an enlarged tongue (macroglossia).

Children may experience feeding difficulties, and recurrent respiratory tract and middle ear infections (otitis media) are common.

Diagnosis

The disorder can be diagnosed based on the above‑mentioned clinical symptoms. Definitive genetic diagnosis is probably not possible, as the gene responsible for the syndrome has not yet been identified.

Treatment

There is no prevention, and the syndrome itself cannot be cured. Intellectual disability often requires a patient and sensitive approach, usually including special educational support.

• nízka pôrodná váha
• spomalený rast
• deformácie horných a dolných končatín
• skrátený piaty prst
• nedostatočne vyvinuté nechty
• ľahká až ťažká mentálna retardácia
• makrglosia (zväčšený jazyk)
• zápaly stredného ucha
• široký nos a ústa
• infekcie dýchacích ciest