Syndromic Craniosynostosis / Craniofacial Dystosis

Craniosynostosis, can be defined according to the number of sutures involved, the relationship to a known disorder, and its genetics. It can be either simple, with only one suture involved, or complex, involving multiple sutures. In isolated craniosynostosis, the patient has no other primary condition, whereas patients with syndromic craniosynostosis have other anomalies. Apert syndrome, for example, is characterized by craniosynostosis, midface hypoplasia, and symmetric syndactyly of hands and feet. In recent years, many newly recognized syndromes with craniosynostosis have been described. Syndrome categories are based on known differences in etiology or on distinctive overall syndromic patterns.

Click on the syndrome title for more information:

Apert syndrome: 1.5 per 100,000 per year. Apert syndrome was calculated to have a birth prevalence of approximately 15.5 in 1 million births and accounts for about 4.5% of all cases of craniosynostosis.

Crouzon syndrome: 1.5 per 100,000 per year. Crouzon syndrome was similarly estimated to have a birth prevalence of 15.5 in 1,000,000.

Saethre Chotzen Syndrome – SCS is one of the more common forms of syndromic craniosynostosis. Prevalence estimates range from 1:25,000 to 1:50,000. It is generally agreed that SCS has approximately the same prevalence as Crouzon syndrome.

Muenke syndrome: 1 per 30,000 per year, accounting for 8% of craniosynostosis.

Pfeiffer syndrome: 1 per 100,000 per year.

Saethre-Chotzen syndrome: Saethre-Chotzen syndrome is caused by mutations in the TWIST gene located on the short arm of chromosome 7.

Jackson Weis Syndrome: Jackson–Weiss syndrome is a rare genetic disorder; its incidence is unknown.

Beare-Stevenson cutis gyrata syndrome: Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide.

FGFR-2 Related Isolated Uni-Coronal Synostosis: Similar to Muenke Syndrome

Because a large number of patients with craniosynostosis are now being genetically screened, this has led to the discovery of an increasing number of rare variants.

FGFR2 most commonly involved gene: The prevalence of independent mutations found in different genes is in the order FGFR2 > FGFR3 > TWIST1 > FGFR1. The p.P250R mutation in FGFR3 (Muenke syndrome) is the single most common craniosynostosis mutation observed.

Craniofrontonasal Dysplasia  Craniofrontonasal Syndrome or Dysplasia is often referred to as CFND or CFNS. It is one of the craniofacial conditions that fall into the group called Craniofacial Dysostosis syndromes. Craniofrontonasal syndrome predominantly affects the head, face and limbs and presents with a number of typical features which require the child to be treated by a multidisciplinary team of clinical specialities integrating the various expertises. The condition generally affects females more frequently and more severely than males.   Please join the Facebook support group if your child has been diagnosed with CFND – you will find a wonderful support system here. Craniofrontonasal Syndrome – CFNS, CFND, FND

All syndromic and complex Craniosynostosis patients should seek treatment with an experienced multi-disciplinary craniofacial team and should be followed through adulthood.

For more information regarding FGFR2 Related Craniosynostosis Syndromes – Click Here

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