Reports from the MHC data base
Acrocephalosyndactyly type 1
1:100 000 live births
Autosomal dominant genetic trait with aberration on chromosome 10. Most often spontaneous mutation.
Cranial malformations and malformations of the hands and feet. Fusion of the cervical vertebrae is frequent. Children with Apert Syndrome often have delayed speech and language development, as well as learning disabilities. They also generally have vision and hearing problems. Severe acne is common while growing up.
Premature fusion of the bones at the base of the skull (craniosynostosis) gives rise to craniofacial malformations. The palate is often high and narrow, and some children are born with a cleft soft palate. Crowded teeth and an underbite are common. In a recently published study irregularities were noted in the region of the dentino-enamel junction, which could affect caries progression and also make dental management more difficult. Constriction in the upper respiratory system may lead to breathing difficulties and sleep apnea (frequently stopping breathing when asleep). Craniofacial malformations lead to articulation difficulties and impair chewing ability.
- In cases of craniofacial malformations, a specialist team will be needed for follow up and treatment.
- Most individuals with Apert syndrome require both orofacial surgery and extensive orthodontia.
- Many of these individuals require supplementary prophylactic dental care.
- Speech and language disabilities are dealt with by a speech therapist.
- Snoring problems should be followed up by a physician.
- The rare disease database of the Swedish National Board of Health and Welfare.
- The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
- The Documentation from the Ågrenska national competence centre for rare diseases.
- Surman TL, Logan RM, Townsend GC, Anderson PJ. Oral features in Apert syndrome: a histological investigation.