Jackson-Weiss syndrome , JWS (skrót)

People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.

Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.

Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features.

In some cases, Jackson-Weiss Syndrome may result from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically).

Mutations in the FGFR2 gene cause Jackson-Weiss syndrome.

Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones and foot bones.

In the second, a team again linked receptor No. 2 to a skeletal problem, this time to Jackson-Weiss syndrome, which prompts the development of skull and foot anomalies.

Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, squamous cell lung cancer (14) and autosomal dominant Kallmann syndrome.

FGFR2: fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)

The disorders resulting from defects in fibroblast growth factor 2 also give rise to abnormal skulls and, in the case of Jackson-Weiss syndrome, to broad big toes that also point toward one another like a couple of thumbs.

Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.

Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities Jackson-Weiss Craniosynostosis None Jackson-Weiss Syndrome (JWS) is a rare genetic disorder characterized by distinctive malformations of the head and facial (craniofacial) area and abnormalities of the feet.