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Jackson-Weiss syndrome(JWS)

MedGen UID:
208653
•Concept ID:
C0795998
•
Disease or Syndrome
Synonyms: Craniosynostosis, midfacial hypoplasia, and foot abnormalities; JWS
SNOMED CT: Jackson-Weiss syndrome (709105005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Genes (locations): FGFR1 (8p11.23); FGFR2 (10q26.13)
 
Monarch Initiative: MONDO:0007400
OMIM®: 123150
Orphanet: ORPHA1540

Definition

Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by Heike et al., 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.

Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.

Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.  https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome

Clinical features

From HPO
Hallux varus
MedGen UID:
107471
•Concept ID:
C0546297
•
Anatomical Abnormality
Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.
See: Feature record | Search on this feature
Short first metatarsal
MedGen UID:
330663
•Concept ID:
C1841688
•
Finding
Short first metatarsal bone.
See: Feature record | Search on this feature
Broad metatarsal
MedGen UID:
330797
•Concept ID:
C1842231
•
Finding
Increased side-to-side width of a metatarsal bone.
See: Feature record | Search on this feature
Broad first metatarsal
MedGen UID:
341001
•Concept ID:
C1855899
•
Finding
Increased side-to-side width of the first metatarsal bone.
See: Feature record | Search on this feature
Broad hallux
MedGen UID:
401165
•Concept ID:
C1867131
•
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
See: Feature record | Search on this feature
Broad proximal phalanx of the hallux
MedGen UID:
866981
•Concept ID:
C4021338
•
Anatomical Abnormality
Increased width of proximal phalanx of big toe.
See: Feature record | Search on this feature
Broad distal phalanx of the hallux
MedGen UID:
869640
•Concept ID:
C4024068
•
Anatomical Abnormality
An increase in width of the distal phalanx of the big toe.
See: Feature record | Search on this feature
2-3 toe syndactyly
MedGen UID:
1645640
•Concept ID:
C4551570
•
Congenital Abnormality
Syndactyly with fusion of toes two and three.
See: Feature record | Search on this feature
Craniosynostosis syndrome
MedGen UID:
1163
•Concept ID:
C0010278
•
Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
See: Feature record | Search on this feature
Coronal craniosynostosis
MedGen UID:
344694
•Concept ID:
C1856266
•
Congenital Abnormality
Premature closure of the coronal suture of skull.
See: Feature record | Search on this feature
Malar flattening
MedGen UID:
347616
•Concept ID:
C1858085
•
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
See: Feature record | Search on this feature
Calcaneonavicular fusion
MedGen UID:
870288
•Concept ID:
C4024730
•
Finding
Synostosis of the calcaneus with the navicular bone.
See: Feature record | Search on this feature
Prominent forehead
MedGen UID:
373291
•Concept ID:
C1837260
•
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
See: Feature record | Search on this feature
Midface retrusion
MedGen UID:
339938
•Concept ID:
C1853242
•
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
See: Feature record | Search on this feature
Proptosis
MedGen UID:
41917
•Concept ID:
C0015300
•
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Jackson-Weiss syndrome in Orphanet.

Recent clinical studies

Etiology

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.
van Herwerden L, Rose CS, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM
Am J Hum Genet 1994 Apr;54(4):669-74. PMID: 8128964Free PMC Article

Diagnosis

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.
Raposo-Amaral CE, Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E
Childs Nerv Syst 2021 Jul;37(7):2391-2397. Epub 2021 Jan 6 doi: 10.1007/s00381-020-04993-w. PMID: 33404724
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR
Am J Med Genet A 2019 Dec;179(12):2447-2453. Epub 2019 Sep 11 doi: 10.1002/ajmg.a.61354. PMID: 31512363
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.
Agochukwu NB, Solomon BD, Muenke M
Int J Pediatr Otorhinolaryngol 2014 Dec;78(12):2037-47. Epub 2014 Sep 28 doi: 10.1016/j.ijporl.2014.09.019. PMID: 25441602
Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred.
Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M
Am J Med Genet 2001 May 15;100(4):315-24. doi: 10.1002/ajmg.1266. PMID: 11343323
Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.
Wilkie AO
Indian J Pediatr 1996 May-Jun;63(3):351-6. doi: 10.1007/BF02751527. PMID: 10830010

Prognosis

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.
Raposo-Amaral CE, Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E
Childs Nerv Syst 2021 Jul;37(7):2391-2397. Epub 2021 Jan 6 doi: 10.1007/s00381-020-04993-w. PMID: 33404724
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA
Hum Genet 1997 Nov;101(1):47-50. doi: 10.1007/s004390050584. PMID: 9385368

Clinical prediction guides

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.
Raposo-Amaral CE, Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E
Childs Nerv Syst 2021 Jul;37(7):2391-2397. Epub 2021 Jan 6 doi: 10.1007/s00381-020-04993-w. PMID: 33404724
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA
Hum Genet 1997 Nov;101(1):47-50. doi: 10.1007/s004390050584. PMID: 9385368
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW
Hum Mol Genet 1995 Jul;4(7):1229-33. doi: 10.1093/hmg/4.7.1229. PMID: 8528214
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.
van Herwerden L, Rose CS, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM
Am J Hum Genet 1994 Apr;54(4):669-74. PMID: 8128964Free PMC Article
Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities.
Stanković B, Krstić V, Stankov B, Jojić L, Nagulić M, Artiko G
Doc Ophthalmol 1994;85(3):281-6. doi: 10.1007/BF01664936. PMID: 7924855

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