Elsahy-Waters Syndrome

Clinical Characteristics
Ocular Features: 

Structural anomalies of periocular tissues are common.  Hypertelorism, proptosis, and telecanthus may be striking.  Colobomas or clefts of the upper lid are frequently seen.  The eyebrows are bushy and synophyrs may be present across a broad nasal bridge.  Megalocornea, downslanting lid fissures, glaucoma and cataracts have also been reported but are uncommon.

Systemic Features: 

The skull has been described as brachycephalic.  The midface is flat due to maxillary hypoplasia. The lower jaw is prominent and some patients have mandibular prognathism.  A bifid uvula or partial clefting of the palate are common.  Low-set and posteriorly rotated ears have been reported as well.

 Both pectus excavatum and pectus carinatum have been described.  The teeth have dysplastic enamel and often have obliterated pulp chambers and dental cysts.  Their roots may be shortened and deformed and they are often lost early.  Vertebrae may have fusion of the spines, particularly in the cervical area.  A mixed type of hearing loss is common and some degree of intellectual disability is often evident, especially in older individuals.  Most males have some degree of hypospadias.  Cryptorchidism has been reported in one individual.

Brain imaging in one case revealed no abnormalities.

Genetics

This disorder results from biallelic mutations in the CDH11 gene (16q21).  The parents have been consanguineous in most reports and no vertical transmission has been documented making autosomal recessive the most likely pattern of inheritance.

Treatment
Treatment Options: 

No treatment for the general disorder has been reported.  Eyelid and palatal defects may be surgically repaired and assistive hearing devices may be of benefit.  Special education is also likely to be helpful.

References
Article Title: 

References

Harms FL, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya FS. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. Am J Med Genet A. 2018 Feb;176(2):477-482.

PubMedID: 29271567

Taskiran EZ, Karaosmanoglu B, Kosukcu C, Dogan OA, Taylan-Sekeroglu H, Simsek-Kiper PO, Utine EG, Boduroglu K, Alikasifoglu M. Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. Am J Med Genet A. 2017 Dec;173(12):3143-3152.

PubMedID: 28988429