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]

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]

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]

The second-generation sequencing and first-generation sequencing verification showed that the mutation was present and reliable. [frontiersin.org]

If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. [dovemed.com]

• Sepsis

  Electrolyte imbalance, infections, and total parenteral nutrition (TPN) and catheter-related complications (sepsis and catheter blockage) can develop. The usual cause of mortality in these patients is sepsis and hepatic failure [17-18]. [cureus.com]

  Past medical and surgical history Due to recurrent fever for more than 2 days, the child was hospitalized in the neonatology department of our hospital and was diagnosed as neonatal sepsis, neonatal purulent meningitis, neonatal pneumonia, neonatal lupus [frontiersin.org]

• Infertility

  Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002). [ncbi.nlm.nih.gov]

  View the complete list with 83 more genes Specificity 1 % Genes 100 % Male Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. [mendelian.co]

• Intermittent Fever

  Two months later, the child was readmitted to the neonatal surgery department with a presentation of intermittent fever for 10 days. [frontiersin.org]

• 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]

• Abdominal Distension

  On the second day of life, he developed abdominal distension. Two male siblings who died during the neonatal period had long segment Hirschsprung's disease, with one of them having in addition, a white forelock. [Abdulrazzaq YM. [cags.org.ae]

  Diagnostic assessment More than 1 month after the megacolon surgery, the patient presented with abdominal distension with a concomitant fever of a 2-day duration.The patient had a grayish-blue bilateral iris, hypergenic expigmentation of the skin and [frontiersin.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

  Hemolytic anemia Global developmental delay Seizures Hearing impairment Short stature Obesity Breast cancer [enigmagenomics.com]

  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]

• White Eyebrows

  eyebrow White eyelashes White forelock Abnormality of the nervous system Aganglionic megacolon Anosmia Ear malformation Sensorineural hearing loss disorder IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies [ncbi.nlm.nih.gov]

  White eyelashes MedGen UID: 332275 •Concept ID: C1836736 • Finding White color (lack of pigmentation) of the eyelashes. 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]

• Heterochromia Iridis

  Heterochromia iridis MedGen UID: 98395 •Concept ID: C0423318 • Finding Heterochromia iridis is a difference in the color of the iris in the two eyes. [ncbi.nlm.nih.gov]

  Major criteria Sensorineural deafness Iris pigmentary abnormality, such as heterochromia iridis – complete, partial, or segmental; isohypochromia iridis; or fundus pigmentary abnormalities Abnormalities of hair pigmentation, such as white forelock, eyebrows [dermnetnz.org]

  Major criteria: Congenital sensorineural hearing loss (present from birth) Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of [catatanmomkaki.blogspot.com]

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]

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]

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]

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]

Waardenburg syndrome type 3 prognosis Due to the very few number of cases described so far, information on prognosis and quality of life is limited. [healthjade.com]

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]

[…] medlineplus.gov/genetics/condition/waardenburg-syndrome From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology [ncbi.nlm.nih.gov]

[…] 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]

(Etiology) Waardenburg Syndrome Type 4 is subdivided into 4A, 4B and 4C subtypes, each caused by mutations in different genes Type 4A is caused by mutations in the EDNRBgene Mutations in EDN3cause 4B Mutations inSOX10cause type 4C Waardenburg Syndrome [dovemed.com]

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]

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

How can Waardenburg Syndrome Type 4 be Prevented? Currently, Waardenburg Syndrome Type 4 may not be preventable, since it is a genetic disorder. [dovemed.com]

[…] 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. [healthjade.com]

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]