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Condition report · Musculoskeletal

Elsahy-Waters Syndrome

A rare inherited condition affecting the face, teeth, spine and genitals, with distinctive facial features, dental problems and fused neck vertebrae. It is caused by changes in both copies of the CDH11 gene.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of CDH11, which makes cadherin-11, an adhesion protein important for bone formation. The changes cause loss of function of the protein.

Signs and symptoms

Distinctive facial features, including a short, broad head, a broad forehead, widely spaced eyes and a flat midface. Dental problems can occur, such as premature tooth loss and jaw cysts. Fusion of the neck vertebrae has been reported, as has hypospadias. Intellectual disability can occur and is sometimes mild.

What a diagnosis changes

Care is tailored to the features present, with dental and maxillofacial care, spine assessment, urology for hypospadias and developmental support. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.

Genes analysed

Also known as

brachioskeletogenital syndrome; branchio-skeleto-genital syndrome; BSG syndrome; ESWS; hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss; hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss; hypospadias-hypertelorism-coloboma and deafness syndrome

MONDO:0008885OMIM 211380OMIM 603463Orphanet 1299Orphanet 157788MedGen 923028Sources: [1][2][3]

References

  1. Harms FL, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K et al., 2019. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. American journal of medical genetics. Part A
  2. Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S et al., 2019. A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American journal of medical genetics. Part A
  3. Minatogawa M, Tsukahara Y, Yuzuriha S, Kosho T, 2022. Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia. American journal of medical genetics. Part A

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