OMIM ID:
Elsahy-Waters Syndrome
Alternate Names
Defective Genes
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
Inheritance
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.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.