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]

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

• Failure to Thrive

  This leads to chronic constipation, intestinal obstruction, and failure to thrive, which usually begins during the time of weaning. [escholarship.org]

  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]

  […] to thrive); and/or other abnormalities. [rarediseases.org]

• 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]

  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]

• Abdominal Distension

  Small amount of stools were passed through the stoma, but the abdominal distension did not relieve and increased gradually. [perioperativemedicinejournal.biomedcentral.com]

  Patient 2 is a Chinese boy, born at term, who developed abdominal distension and vomiting on day 2 of life with delayed passage of meconium. He had dysmorphic facial features with ptosis of the right eye. [jmg.bmj.com]

• 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]

• Hearing Impairment

  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]

  Proper audiological assessment at birth and at periodic intervals can detect hearing impairment. Only a few patients, ascribed to specific SOX10 mutations, have additional neurological impairment. [escholarship.org]

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

  Audiological assessment at birth and at periodic intervals can detect hearing impairment. Parents must be provided with genetic counseling for the next pregnancy. [perioperativemedicinejournal.biomedcentral.com]

• Blue Eyes

  People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. [medlineplus.gov]

  Waardenburg presented a case of a bald, deaf-mute man with blue eyes, having dystopia punctorum lacrimarum, blepharophimosis, and partial iris atrophy [1]. [cureus.com]

  Symptoms of type 1 Type 1 symptoms include: wide-set eyes heterochromia or pale blue eyes white patches on the hair and skin deafness caused by problems of the inner ear Symptoms of type 2 The symptoms of type 2 are similar to those seen in type 1, except [healthline.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]

  0000506 Percent of people who have these symptoms is not available through HPO Aganglionic megacolon Enlarged colon lacking nerve cells 0002251 Ataxia 0001251 Autosomal dominant inheritance 0000006 Autosomal recessive inheritance 0000007 Blue irides Blue [rarediseases.info.nih.gov]

• Heterochromia Iridis

  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]

  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]

• 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]

• Broad Nasal Bridge

  nasal bridge Incomplete development of nostrils Prematurely gray hair (under age 30) [cureus.com]

  nasal bridge incomplete nostril development gray hair before the age of 30 A diagnosis of Waardenburg syndrome type 1 requires two major criteria or one major and two minor criteria. [healthline.com]

  nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose 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 [ [rarediseases.info.nih.gov]

• Hypertelorism

  Rarely, affected individuals also have widely spaced eyes (ocular hypertelorism). As mentioned previously, researchers have described different forms of WS based upon certain symptoms and specific genetic findings. [rarediseases.org]

• Suggestibility

  As mentioned above, evidence suggests that the MITF gene is regulated by the PAX3 gene. [rarediseases.org]

  Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome Free Mai Har Shama, Vincent Chi Hang Luib, Benedict Ling Sze Chenb, Ming Fub, Paul Kwong Hang Tamb aDepartment of Biochemistry, The University of Hong Kong, Pokfulam [jmg.bmj.com]

  Ileostomy stoma site biopsy revealed lack of ganglion cells, suggesting total colon Hirschsprung’s disease. [perioperativemedicinejournal.biomedcentral.com]

  […] transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. [5] Evidence suggests [emedicine.medscape.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]

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]

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]

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

What is the treatment for Waardenburg syndrome? There is no direct treatment for Waardenburg syndrome itself, and as it is a genetic condition there is no cure. Genetic counselling may be beneficial for affected patients who want to start a family. [dermnetnz.org]

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]

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]