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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.
 
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.
Broad metatarsal
MedGen UID:
330797
Concept ID:
C1842231
Finding
Increased side-to-side width of a metatarsal bone.
Broad first metatarsal
MedGen UID:
341001
Concept ID:
C1855899
Finding
Increased side-to-side width of the first metatarsal bone.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Broad proximal phalanx of the hallux
MedGen UID:
866981
Concept ID:
C4021338
Anatomical Abnormality
Increased width of proximal phalanx of big toe.
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.
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.
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.
Short first metatarsal
MedGen UID:
330663
Concept ID:
C1841688
Finding
Short first metatarsal bone.
Coronal craniosynostosis
MedGen UID:
344694
Concept ID:
C1856266
Congenital Abnormality
Premature closure of the coronal suture of skull.
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.
Calcaneonavicular fusion
MedGen UID:
870288
Concept ID:
C4024730
Finding
Synostosis of the calcaneus with the navicular bone.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
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.
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.

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

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

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
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
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
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
Wilkie AO
Indian J Pediatr 1996 May-Jun;63(3):351-6. doi: 10.1007/BF02751527. PMID: 10830010

Prognosis

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
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

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
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
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
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
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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