Apert syndrome

Apert's syndrome (acrocephalosyndactyly) is a rare genetic conditional disease affecting mainly the skull with premature closure of the seams and then the upper and lower limbs syndactyly. It belongs to the broad group of craniosynostoses, historically Apert syndrome and some other diseases from this group were referred to (for the combination of typical manifestations) as acrocephalosyndactyly.

Genetics

Apert syndrome is caused by a mutation in the gene for fibroblast growth factor receptor type 2 (FGFR2, 10q26.13, OMIM: 176943). The inheritance of the syndrome is autosomal dominant.

Etiopathogenesis

Probably a primary germ defect causing premature closure of sutures and fusion of fingers (syndactyly).

Appearance of a patient with Apert syndrome, dentitio tarda

Clinical picture

Elongation of the skull (turicephaly);
syndactyly;
multiple tarsal coalitions;
deformities middle ear;
cerebral atrophy (by the pressure of the growing brain on the rigid skeleton of the skull).

Therapy

Neurosurgical;
orthopedic (disruption of cranial seams, separation of fingers).

Links

References

DUNGL, P., et al. Ortopedie. 1. edition. Prague : Grada Publishing, 2005. ISBN 80-247-0550-8.