CDH11

This website provides information on patients with mutations in the CDH11 gene, including clinical data, molecular data, management and research options.

Mutations in the CDH11 gene give rise to two different disorders: Elsahy-Waters syndrome (ESWS, OMIM#211380) and Teebi hypertelorism syndrome-2 (TBHS2, OMIM#619736). They are two multisystem disorders respectively characterized by facial asymmetry, marked hypertelorism, midface hypoplasia, prognathism, early loss of teeth, vertebral fusions, and moderate mental retardation (ESWS) and by hypertelorism, prominent forehead, thick-broad eyebrows, and short nose with depressed nasal root. Other features include thin upper lip, high or cleft palate. Developmental delay and/or impaired intellectual development have been observed in some patients (TBSH2).

Patients with homozygous CDH11 variants (causing ESWS) or with heterozygous variants (causing TBHS2) share some general craniofacial features, including hypertelorism, proptosis, ptosis, a broad forehead, broad and thick eyebrows, a short nose with a broad nasal tip, and a thin upper lip. However, these two cohorts of individuals are vastly different in the prevalence and severity of developmental delay/intellectual disability and skeletal abnormalities.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CDH11 gene.