neurosensory deafness (frequently bilateral, but can be unilateral) and intestinal obstruction presenting as bilious vomiting, inability to pass meconium and abdominal distension since birth. [orpha.net]

We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. [cureus.com]

There have only been a total of 50 cases reported in total as of 2016.[1] Presentation[edit] The blue irises seen in the image present a common phenotype seen by patient of Type 4A Waardenburg Syndrome. [en.wikipedia.org]

WS4C Synonyms Hirschsprung disease with pigmentary anomaly Shah-Waardenburg syndrome Waardenburg-Shah syndrome Waardenburg syndrome type IVC Waardenburg syndrome with Hirschsprung disease type 4C Keywords Disclaimer Any medical or genetic information present [uniprot.org]

If inner ear deafness is present, hearing aids or cochlear implants can be used. [healthline.com]

• Asymptomatic

  Heterozygous mutations in EDNRB and EDN3 are often asymptomatic although patients may also present with less severe phenotypes (isolated Hirschsprung disease, isolated deafness, less extended hypopigmentation, or Waardenburg syndrome type 2). [orpha.net]

• Anorexia

  Associated symptoms and findings may include an abnormal accumulation of feces within the colon; widening of the colon above the affected segment (megacolon); abdominal bloating (distension); vomiting; lack of appetite (anorexia); failure to grow and [rarediseases.org]

• Anosmia

  Depending on the gene involved, morphological abnormalities of the temporal bone (especially utricle and semi-circular canals), anosmia (with or without agenesis of the olfactory bulbs) and hypogonadotropic hypogonadism can be associated. [orpha.net]

  Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 5%-29% of people have these symptoms Abnormality of retinal pigmentation 0007703 Anosmia [rarediseases.info.nih.gov]

• Abdominal Pain

  [citation needed] Symptoms include abdominal pain and bowel obstruction. Waardenburg Syndrome Type 4A is the rarest among the types, appearing only once in about every 1,000,000 individuals. [en.wikipedia.org]

  pain Pain in stomach Stomach pain [ more ] 0002027 Olfactory lobe agenesis Olfactory lobe absence 0001341 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding [rarediseases.info.nih.gov]

• Vomiting

  […] eyebrows and eyelashes, heterochromia of the irides, possibly retinal pigment abnormalities and/or hypopigmented patches on the skin), neurosensory deafness (frequently bilateral, but can be unilateral) and intestinal obstruction presenting as bilious vomiting [orpha.net]

  Past medical history included episodes of bilious vomiting, failure to thrive, and multiple bouts of severe constipation at the age of six months. [cureus.com]

  Associated symptoms and findings may include an abnormal accumulation of feces within the colon; widening of the colon above the affected segment (megacolon); abdominal bloating (distension); vomiting; lack of appetite (anorexia); failure to grow and [rarediseases.org]

• Bilious Vomiting

  vomiting, inability to pass meconium and abdominal distension since birth. [orpha.net]

  Past medical history included episodes of bilious vomiting, failure to thrive, and multiple bouts of severe constipation at the age of six months. [cureus.com]

• Hearing Impairment

  Hearing aids are recommended to ameliorate hearing impairment, as well as to improve language, communication and cognitive skills. [orpha.net]

  Showing of 35 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormal macular morphology 0001103 Abnormality of vision Abnormality of sight Vision issue [ more ] 0000504 Constipation 0002019 Hearing impairment Deafness [rarediseases.info.nih.gov]

• Heterochromia Iridis

  (Sumber : MedicineNet ) WS adalah kelainan genetik yang menyebabkan tuli, rambut bagian depan berwarna putih, iris beda warna (heterochromia iridis), bulu mata berwarna putih, sudut mata bagian dalam yang luas. [catatanmomkaki.blogspot.com]

  This is known as heterochromia iridis. Heterochromia can exist without the presence of Waardenburg syndrome. In some newborns with Waardenburg syndrome, the condition is obvious at birth. [healthline.com]

  Type I is characterized by the presence of dystopia canthorum, sensorineural hearing loss, heterochromia iridis, white forelock, hypopigmentation, and synophrys. Type II has the same features like type I but lacks dystopia canthorum. [cureus.com]

  Their eyes also present abnormal pigmentation such as heterochromia iridis or uncharacteristic blue eyes.[1] The study conducted by Shah reported additional physical features such as white eyebrows and eyelashes as well, which is not seen in other types [en.wikipedia.org]

• Retinal Pigmentation

  Clinical description Patients usually present in the neonatal period with pigmentary anomalies (including white forelock, eyebrows and eyelashes, heterochromia of the irides, possibly retinal pigment abnormalities and/or hypopigmented patches on the skin [orpha.net]

  pigmentation 0007703 Anosmia Lost smell 0000458 Lacrimal gland hypoplasia Underdeveloped tear gland 0007732 Telecanthus Corners of eye widely separated 0000506 Percent of people who have these symptoms is not available through HPO Aganglionic megacolon [rarediseases.info.nih.gov]

• White Eyebrows

  White eyebrow MedGen UID: 373165 •Concept ID: C1836737 • Finding White color (lack of pigmentation) of the eyebrow. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  Their eyes also present abnormal pigmentation such as heterochromia iridis or uncharacteristic blue eyes.[1] The study conducted by Shah reported additional physical features such as white eyebrows and eyelashes as well, which is not seen in other types [en.wikipedia.org]

  eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 White forelock White part of hair above forehead 0002211 Showing of 35 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice [rarediseases.info.nih.gov]

• Hypopigmented Skin

  skin patches Patchy loss of skin color 0001053 Leukodystrophy 0002415 Muscular hypotonia Low or weak muscle tone 0001252 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Polyneuropathy Peripheral nerve disease 0001271 Premature graying of [rarediseases.info.nih.gov]

• Piebaldism

  Differential diagnosis The differential diagnosis includes other forms of Waardenburg syndrome, piebaldism and ermine phenotype, as well as other causes of hearing loss or Hirschsprung disease. [orpha.net]

  […] include conditions such as frontonasal dysplasia, Waardenburg Shah syndrome and DiGeorge syndrome Therefore, defining the mechanisms of neural crest occasionally attendant pigmentation condition in humans is called Waardenburg - Shah syndrome The terms piebald [amp.en.google-info.cn]

• Nystagmus

  […] delay 0001263 Heterochromia iridis Different colored eyes 0001100 Hypogonadism Decreased activity of gonads 0000135 Hypopigmented skin patches Patchy loss of skin color 0001053 Leukodystrophy 0002415 Muscular hypotonia Low or weak muscle tone 0001252 Nystagmus [rarediseases.info.nih.gov]

Management and treatment Management is only symptomatic. Surgical treatment is required for Hirschsprung disease. Hearing aids are recommended to ameliorate hearing impairment, as well as to improve language, communication and cognitive skills. [orpha.net]

Pedigree: Autosomal dominant Autosomal recessive Treatment Treatment Options: No ocular treatment is necessary but assistive hearing devices can be beneficial. References Article Title: Waardenburg syndrome Read AP, Newton VE. Waardenburg syndrome. [disorders.eyes.arizona.edu]

If hypopigmentation affects more than half the body, depigmentation treatments may help. These treatments bleach all of your skin. They can make lighter patches less obvious. [healthline.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis The prognosis is often good, however, significant morbidity and mortality may be associated due to complications resulting from Hirschsprung disease (related to the size of the aganglionic intestinal segment). [orpha.net]

PMID: 9192262Free PMC Article Prognosis Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

Etiology WSS is caused by abnormal migration or differentiation of neural crest cells during embryonic development. [orpha.net]

[…] directly regulating genes expressed in neural crest lineages, including the enteric ganglia and melanocytes nucleocytoplasmic shuttling protein, playing key roles in neural crest development and subsequent cellular differentiation implicated in the etiology [genatlas.medecine.univ-paris5.fr]

PMID: 12180152Free PMC Article Etiology Li S, Guo M, Ruan B, Liu Y, Cui X, Han W, Li R Genet Test Mol Biomarkers 2020 May;24(5):249-255. Epub 2020 Apr 3 doi: 10.1089/gtmb.2019.0231. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

The parents of our patient were counseled in detail about the etiology and symptoms of WS. The child was referred to a specialist for hearing aid and speech therapy. [cureus.com]

Summary Epidemiology Prevalence is unknown. So far, less than 100 cases have been reported in the literature worldwide. [orpha.net]

[…] crest ( essential for survival and proper differentiation of neural crest cell lineages, where it plays an important role in the generation and maintenance of melanocyte is necessary to maintain the postnatal melanocyte lineage and it is simultaneously prevented [genatlas.medecine.univ-paris5.fr]

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]

Hearing aids can be employed for hearing deficits and can further help prevent speech and cognitive deficits. Melanin in healthy individuals protects against ultraviolet (UV) damage. [cureus.com]