Elsahy-Waters syndrome
Findings
No curated finding names Elsahy-Waters syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.
Definition from the Mondo Disease Ontology (MONDO:0008885), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
92 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the anusHPOHP:0004378
- 1 of 1 reported patient
- Agenesis of incisorHPOHP:0006485
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Bifid scrotumHPOHP:0000048
- 1 of 1 reported patient
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Broad philtrumHPOHP:0000289
- 2 of 2 reported patients
- Bulbous noseHPOHP:0000414
Show the remaining 80
- High palateHPOHP:0000218
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- Multiple impacted teethHPOHP:0001571
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDH11HGNC:1750
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: Elsahy-Waters syndrome
- Also called
- brachioskeletogenital syndromeBSG syndromeESWShypospadias-hypertelorism-coloboma and deafness syndromehypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing losshypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss