Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. [scienceopen.com]

Case report A thirty-six year-old African man, born in the Southern part of Libya, presented with congenital deafness and a white forelock. He was noted to have variable-sized hypopigmented and depigmented patches. [ijdvl.com]

Sensorineural hearing loss is present in the majority of people with WS2 (almost 80%), and heterochromia iridum (differences in eye coloring) is present in almost half.[1] Progressive hearing loss has also been reported in some people with WS2.[3] In [rarediseases.info.nih.gov]

Guaniara D'{\'A}rk de Oliveira El Kadre and Ricardo Sandri Carvalho}, journal={The journal of contemporary dental practice}, year={2016}, volume={17 8}, pages={ 702-5 } } Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting [semanticscholar.org]

April 16, 2019; 92 (16) Resident & Fellow Section First published April 15, 2019, DOI: https://doi.org/10.1212/WNL.0000000000007318 A 5-year-old boy presented with bilateral congenital sensorineural hearing loss and bilateral isohypochromia iridis without [n.neurology.org]

• Epilepsy

  Deficiency – 99.96 2 of 2 SLC18A3 Congenital Myasthenic Syndrome, Fetal Akinesia Deformation Sequence AR 99.97 5 of 5 SLC25A1 Congenital Myasthenic Syndrome AR 90 23 of 25 SLC35A3 Arthrogryposis, Mental Retardation, And Seizures, Autism Spectrum Disorder- Epilepsy-Arthrogryposis [igenomix.es]

• Failure to Thrive

  […] gain weight at the expected rate (failure to thrive); and/or other abnormalities. [rarediseases.org]

• Hyperpigmentation

  (Centre) Left: right fundus with an area of hypopigmentation on the posterior pole as well as nasally; pigmentary mottling and spots of hyperpigmentation in the temporal periphery (arrow); (right) left fundus, albinoid in type with spots of hyperpigmentation [bjo.bmj.com]

• Esotropia

  Firstly, the 5 year old boy, the youngest of three children of a non-consanguineous couple, was referred for ophthalmological evaluation because of constant esotropia in the left eye. [bjo.bmj.com]

• Strabismus

  He had bilateral dark brown irides and strabismus convergens in the left eye (Fig 1, top). The pattern of fundus pigmentation was of a distinctly abnormal type in both eyes. [bjo.bmj.com]

• Lacrimation

  In addition, the condition may be associated with unusually low (inferior) openings to the tear (lacrimal) ducts and an increased susceptibility to infections of the lacrimal sacs (dacryocystitis). [rarediseases.org]

• Hearing Impairment

  Affiliated tissues include eye and skin, and related phenotypes are sensorineural hearing impairment and heterochromia iridis Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital [malacards.org]

  Sensorineural hearing loss is present in the majority of people with WS2 (almost 80%), and heterochromia iridum (differences in eye coloring) is present in almost half.[1] Progressive hearing loss has also been reported in some people with WS2.[3] In [rarediseases.info.nih.gov]

  Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness). [rarediseases.org]

• Ataxia

  AD 100 88 of 88 TSEN2 Pontocerebellar Hypoplasia AR 95.47 4 of 5 TSEN54 Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia AR 96.94 20 of 22 UBA1 Infantile-Onset X- linked Spinal Muscular Atrophy X,XR,G 99.58 NA of NA VAMP1 Spastic Ataxia [igenomix.es]

  DE LEOPARD (3 GENES) NGS BRAF, PTPN11, RAF1 SÍNDROME DE MEDNIK NGS AP1S1 SÍNDROME DE MEGDHEL NGS SERAC1 SÍNDROME DE MOHR-TRANEBJAERG NGS TIMM8A SÍNDROME DE PERRAULT (4 GENES) NGS CLPP, HARS2, HSD17B4, LARS2 SÍNDROME PHARC (POLINEUROPATÍA-HIPOACUSIA-ATAXIA-RETINITIS [humv.es]

• Nystagmus

  Families with WS2A may have the full spectrum of eye findings seen in X-linked ocular albinism I (300500) including decreased acuity, photophobia, nystagmus, translucent irides, hypermetropia, and albinotic fundi with foveal hypoplasia. [disorders.eyes.arizona.edu]

Treatment Treatment Options: No ocular treatment is necessary but assistive hearing devices can be helpful. [disorders.eyes.arizona.edu]

Treatment may include the use of hearing aids and/or cosmetic products or treatments (if desired) for skin hypopigmentation.[1] Waardenburg syndrome type 2 can be further divided into subtypes based on the genetic cause, when the responsible gene can [rarediseases.info.nih.gov]

Standard Therapies Treatment The treatment of WS is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

As no treatment is available for patients with WS 2, prompt diagnosis and referral to a hearing specialist are crucial for the normal development of patients affected with this condition. [ijdvl.com]

Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

These may include the use of specially tinted glasses or contact lenses (e.g., to help reduce possible sensitivity to light), measures to help prevent or treat infection, or other preventive or therapeutic steps. [rarediseases.org]