Carpenter syndrome

Carpenter syndrome is an extremely rare congenital disorder affecting the head, face, and limbs. It occurs in approximately 1 in 1,000,000 live births.

Causes

The cause of the disease is a mutation of a gene located on chromosome 6. The mutation may arise de novo or may be inherited from the parents. There are many individuals who carry the mutated gene but do not manifest the disease—they are carriers only. However, if two such carriers have a child together, there is a relatively high chance that both will pass on the mutated gene, in which case the child will develop Carpenter syndrome.

Manifestations

The genetic disorder manifests with severe deformities of various body parts. Affected individuals suffer from short stature and obesity, and often have short, fused fingers or toes (syndactyly); in some cases, extra digits (polydactyly) may also be present.

In the skull, premature fusion of certain cranial sutures occurs, resulting in an abnormal shape of the skull. The head may be short and broad or cone‑shaped. In addition, various facial deformities are present, such as a wide, short nose, large nostrils, and a broad face.

If the affected child is male, undescended testes (cryptorchidism) are often present. Intellectual functioning may be normal; however, intellectual disability of varying severity occurs very frequently. In addition to clinical manifestations, genetic testing is required to establish the correct diagnosis.

Treatment

The syndrome itself is congenital and therefore incurable. Individual deformities may require surgical correction (including plastic surgery). Any associated behavioral disorders and intellectual disability require special educational support.

• nízky vzrast
• obezita
• syndaktýlia (zrastené prsty) alebo polydaktýlia (nadpočetné prsty)
• zrast lebečných švov – deformácie lebky
• deformácie tváre
• u chlapcov nezostúpené semenníky
• možnosť ľahkej až strednej mentálnej retardácie