Jackson-Weiss Syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Jackson-Weiss syndrome is a very rare genetic disease with a combination of craniosynostosis , hypoplasia of the midface and coalitions of the feet. According to MM Cohen , the disease is counted among the syndromic craniosynostoses.

The name refers to the first description from 1976 by CE Jackson , L. Weiss and co-workers.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease is based on mutations on chromosome 10 in the gene of the fibroblast growth factor receptor: FGFR1 gene at location 8p11.23-p11.22 or FGFR2 gene at location 10q26.13.

Clinical manifestations

Clinical criteria are:

Various forms of craniosynostosis
Facial dysmorphia
Synostosis on the hind foot or metatarsal (tarsal or metatarsal)
Broadened big toe

therapy

The treatment takes place surgically in several steps.

literature

MM Cohen: Jackson-Weiss syndrome. In: American journal of medical genetics. Vol. 100, No. 4, May 2001, pp. 325-329, ISSN 0148-7299 . PMID 11343324 .
LC Adès, JC Mulley, IP Senga, LL Morris, DJ David, EA Haan: Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. In: American journal of medical genetics. Vol. 51, No. 2, June 1994, pp. 121-130, ISSN 0148-7299 . doi : 10.1002 / ajmg.1320510208 . PMID 8092187 .

Individual evidence

↑ ^a ^b ^c Jackson-Weiss syndrome. In: Orphanet (Rare Disease Database).
^ MM Cohen Jr: Craniosynostosis. Diagnosis, evaluation and management. Raven, New York 1986.
↑ CE Jackson, L. Weiss, WA Reynolds, TF Forman, JA Peterson: Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. In: The Journal of pediatrics. Vol. 88, No. 6, June 1976, pp. 963-968, ISSN 0022-3476 . PMID 1271196 .
↑ Jackson-Weiss Syndrome. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] Jackson-Weiss syndrome. In: Orphanet (Rare Disease Database).

[2] MM Cohen Jr: Craniosynostosis. Diagnosis, evaluation and management. Raven, New York 1986.

[3] CE Jackson, L. Weiss, WA Reynolds, TF Forman, JA Peterson: Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. In: The Journal of pediatrics. Vol. 88, No. 6, June 1976, pp. 963-968, ISSN 0022-3476 . PMID 1271196 .

[4] Jackson-Weiss Syndrome. In: Online Mendelian Inheritance in Man . (English)