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]

We present a case of this subtype 4 that… Expand [semanticscholar.org]

Sensorineural deafness can be present in 50 percent of the cases, presenting at birth or later in life, but mental deficiency is not seen. The clinical picture of this syndrome is very typical. [escholarship.org]

Patients with short segment involvement mostly present at a more advanced age with chronic constipation, malabsorption, and enterocolitis, whereas those with long segment involvement present with intestinal obstruction findings such as bilious vomiting [panafrican-med-journal.com]

Introduction Waardenburg syndrome (WS) is a rare inherited disorder of autosomal recessive type with variable clinical presentation. [perioperativemedicinejournal.biomedcentral.com]

• Anosmia

  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]

• Bilious Vomiting

  This patient presented with iris hypopigmentation and poliosis as white forelock, white eyelashes associated with bilious vomiting, deafness, refusal to feed, and failure to pass meconium indicating intestinal obstruction. [perioperativemedicinejournal.biomedcentral.com]

  Patient and observation A 4-day-old full term male baby with a birthweight of 3100 g was admitted with history of bilious vomiting, inability to pass meconium, and abdominal distension since birth. [panafrican-med-journal.com]

  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]

• Heterochromia Iridis

  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]

  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]

  Major Criteria Congenital sensorineural hearing loss Pigmentary abnormality of the eyes: heterochromia iridis, isohypochromia iridis or pigementary defects of the fundus First degree relative with Waardenburg syndrome Pigmentary defects of hair: white [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]

  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 Involuntary, rapid [rarediseases.info.nih.gov]

• White Eyebrows

  Figure 1 Figure 2 Figure 3 Figure 4 Discussion Shah-Waardenburg syndrome is an unusual variant of Waardenburg syndrome that is associated with white forelock, white eyebrows and eyelashes, heterochromic irides, and intestinal obstruction associated with [escholarship.org]

  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]

• Piebaldism

  Cutaneous lesions include achromic patches as seen in piebaldism, and occasionally, hyperpigmented macules on normal-looking skin. White forelock or poliosis affecting the anterior scalp may be present at birth, but also may appear later. [escholarship.org]

  Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome. Pediatr Dermatol. 2019 Jan. 36 (1):72-84. [QxMD MEDLINE Link]. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. [emedicine.medscape.com]

• Premature Graying of the Hair

  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]

• 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]

• High Nasal Root

  Upon a physical examination, the patient had blue homochromatic irises with a normal visual response, coarse hair texture, pallor of nails, and a slightly broad high nasal root. [cureus.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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. J Med Genet. 1997 Aug;34(8):656-65. Review. [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]

Exams and Tests Tests may include: Audiometry Bowel transit time Colon biopsy Genetic testing Treatment There is no specific treatment. Symptoms will be treated as needed. [mountsinai.org]

Outlook (Prognosis) Once hearing problems are addressed, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications. [mountsinai.org]

The authors present such a case of long segment aganglionosis in a 4-day-old male with Waardenburg-Shah syndrome and discuss diagnosis, treatment, and prognosis. [panafrican-med-journal.com]

Given the clinical variability even within families, this testing is rarely requested, but it could be proposed for severe cases with homozygous forms of EDN3 and EDNRB mutations in which the prognosis is not always favorable. [karger.com]

Genetic counseling must be provided for families with this disorder, and the occurrence rate depends on the specific molecular etiology. References 1. [escholarship.org]

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]

This molecular diagnosis allows us to provide genetic counseling to the family and eventually propose prenatal diagnosis to prevent recurrence of the disease in subsequent pregnancies. © 2015 S. [karger.com]

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]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

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]