Presentation
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]
If inner ear deafness is present, hearing aids or cochlear implants can be used. [healthline.com]
[…] the nostrils Premature gray hair (under age 30) WS type 2 has features similar to type 1, but the inner canthi of the eyes are normal (no dystopia canthorum present). [catatanmomkaki.blogspot.com]
In some individuals with WS, additional facial abnormalities may be present. [rarediseases.org]
The hearing loss is present from birth (congenital). 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. [ghr.nlm.nih.gov]
Entire Body System
-
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]
Respiratoric
-
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]
Gastrointestinal
-
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]
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]
Skin
-
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]
Ears
-
Hearing Impairment
Hearing aids are recommended to ameliorate hearing impairment, as well as to improve language, communication and cognitive skills. [orpha.net]
Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness). [rarediseases.org]
-
Hearing Impairment
Hearing aids are recommended to ameliorate hearing impairment, as well as to improve language, communication and cognitive skills. [orpha.net]
Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness). [rarediseases.org]
Eyes
-
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]
-
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]
-
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]
Treatment
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]
Standard Therapies Treatment The treatment of WS is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
WS tipe 4 memiliki fitur mirip dengan WS tipe 2, tapi dengan penyakit hirschsprung (kondisi yang disebabkan hilangnya sel syaraf pada sebagian atau seluruh otot di usus besar) There is no specific treatment. Symptoms will be treated as needed. [catatanmomkaki.blogspot.com]
Prognosis
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]
Etiology
Etiology WSS is caused by abnormal migration or differentiation of neural crest cells during embryonic development. [orpha.net]
Epidemiology
Summary Epidemiology Prevalence is unknown. So far, less than 100 cases have been reported in the literature worldwide. [orpha.net]
Prevention
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]