Synonyms WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM Classification developmental, eye, genetic, otorhinolaryngological, skin Phenotypes Aplasia of the vagina ; Autosomal dominant inheritance ; Blepharophimosis ; Blue irides ; Congenital sensorineural hearing [mousephenotype.org]

Treatment or Management of the Condition There are no treatments of the syndrome; however, hearing aids maybe needed for some individuals and maybe some sort of schooling for the hearing impaired individuals. [wiki.ggc.edu]

For example, a person with WS may have a white forelock, a patch of white hair near the forehead, and no hearing impairment. Others may have white patches of skin and severe hearing impairment. [healthfully.org]

Family history revealed hearing impairment in the elder sister and premature graying of the frontal hair with a broad nasal root in both the siblings and the mother. [tjmrjournal.org]

This disease is grouped under: Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin. 0000504 Congenital sensorineural hearing [rarediseases.info.nih.gov]

graying of the hair (by age 30) Waardenburg syndrome type 2 is defined as having all the features of type 1 except dystopia canthorum. 77% of individuals with type 2 have hearing loss. [verywell.com]

Signs and Symptoms Deafness (bilateral or unilateral) White patches in the skin Premature graying of the hair Presence of white locks of hair Heterochromia- the color of the eyes do not match Wide set eyes (hypertelorism) A prominent square jaw Eyebrows [syndromespedia.com]

Minor criteria include skin hypopigmentation (congenital leukoderma/ white skin patches), medial eyebrow flare (synophrys), broad nasal root, hypoplasia alae nasi, and premature graying of the hair. [panafrican-med-journal.com]

Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]: Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short [genecards.org]

Disease description Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation [uniprot.org]

[…] symbols: HUP2, WS1 ) Mouse Orthologs Pax3 (Withdrawn symbols: Pax-3, Sp, Splchl2 ) Source OMIM:193500 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models [mousephenotype.org]

Distraction test was not heard in either ear. [tjmrjournal.org]