Jackson-Weiss Syndrome

Clinical Characteristics
Ocular Features: 

The facial malformation such as the flattened midface with maxillary hypoplasia leads to shallow orbits with the result that the eyes appear proptotic.  Some but not all individuals have strabismus, usually exotropia.  Optic atrophy has not been reported. 

Systemic Features: 

Infants usually present at birth with skull deformities resembling some variant of acrocephalosyndactyly.  Some or all of the skull sutures may be fused.  In some individuals craniectomy is necessary while others have normal brain development.  Few patients have evidence of abnormal neurological development and psychometric testing reveals IQ's in the normal range.  The midface is flattened with sometimes severe maxillary hypoplasia.  No hand deformities are present. 

There may be cutaneous syndactyly of the second and third toes.  Variable tarsal fusion is often present. The great toe may be abnormally broad and deviated medially.  The first metatarsals and proximal phalanges of the great toes are generally broad.

The phenotype is highly variable and even among individuals in genetically more homogeneous populations such as the Old Order Amish the range of facial, skull, and digital anomalies include features found among all of the craniosynostosis syndromes except for Apert syndrome.


Heterozygous mutations in the FGFR2 gene (10q26.13) are likely responsible for this autosomal dominant condition. 

Other forms of craniosynostosis in which mutations in FGFR2 have been found are: Beare-Stevenson Syndrome (123790), Crouzon Syndrome (123500), Pfeiffer Syndrome (101600), Apert Syndrome (101200), and Saethre-Chotzen Syndrome (101400).

Treatment Options: 

There is no treatment beyond surgical correction of selected malformations. The risk of exposure keratitis requires constant vigilance and appropriate corneal lubrication.

Article Title: 


Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M. Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred. Am J Med Genet. 2001 May 15;100(4):315-24.

PubMedID: 11343323

Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA. Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr. 1976 Jun;88(6):963-8.

PubMedID: 12271196