Clinical description Affected cases have a pale skin, blue eyes and light blond to white hair with white eyebrows and eyelashes.
[orpha.net]
eyebrow Pale eyebrow 0002226 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Bilateral sensorineural hearing
[rarediseases.info.nih.gov]
Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypopigmentation of hair Loss of hair color 0005599 Hypopigmentation of the skin Patchy lightened skin 0001010 White
[rarediseases.info.nih.gov]
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]
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
[rarediseases.info.nih.gov]
Abnormality of head or neck Blepharophimosis Mandibular prognathia Oral cleft Smooth philtrum Synophrys Telecanthus Thick eyebrow Underdeveloped nasal alae White eyebrow White
[www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]
White eyebrow MedGen UID: 373165 •Concept ID: C1836737 • Finding White color (lack of pigmentation) of the eyebrow.
[ncbi.nlm.nih.gov]
The study conducted by Shah reported additional physical features such as white eyebrows and eyelashes as well, which is not seen in other types of Waardenburg Syndromes.These
[amp.en.shops-com.in]
Abnormality of head or neck Blepharophimosis Mandibular prognathia Oral cleft Smooth philtrum Synophrys Telecanthus Thick eyebrow Underdeveloped nasal alae White eyebrow White
[www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]
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
[escholarship.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
[rarediseases.info.nih.gov]
eyebrows and eyelashes as well, which is not seen in other types of Waardenburg Syndromes.
[en.wikipedia.org]
eyebrow Abnormality of the integument Cafe-au-lait spot Hypopigmented skin patches Premature graying of hair White eyebrow White eyelashes White forelock Abnormality of the
[familydiagnosis.com]
eyebrow ; White eyelashes ; White forelock Associated Genes SOX10 (Withdrawn symbols: DOM, WS2E, WS4 ) Mouse Orthologs Sox10 (Withdrawn symbols: Dom, Sox21, gt ) Source OMIM
[mousephenotype.org]
[…] eyelashes White forelock White eyebrows
[mnglabs.com]
[…] skin Eyebrows extending toward middle of face Nose abnormalities Premature graying of the hair (by age 30) Waardenburg syndrome type 2 is defined as having all the features
[verywell.com]
Clinical description Patients usually present in the neonatal period with pigmentary anomalies (including white forelock, eyebrows and eyelashes, heterochromia of the irides
[orpha.net]
[…] forelock, eyebrows, or eyelashes Dystopia canthorum – lateral displacement of inner canthi First degree relative with Waardenburg syndrome Minor criteria Hypopigmented patches
[dermnetnz.org]
[…] skin patches Patchy loss of skin color 0001053 Macule Flat, discolored area of skin 0012733 White eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes
[rarediseases.info.nih.gov]
[…] forelock unpigmented skin beneath the forelock white eyebrows and eyelashes symmetrical non pigmented patches on the face and body narrow border of hyperpigmented skin surrounding
[dynamicnaturesite.blogspot.com]
He also had loss of pigment of the medial eyebrows and a white forelock.
[escholarship.org]
[from NCI] Show allHide all Abnormality of head or neck Synophrys Telecanthus Underdeveloped nasal alae White eyebrow White eyelashes Wide nasal bridge Abnormality of the
[ncbi.nlm.nih.gov]
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]
eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge
[rarediseases.info.nih.gov]
eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge
[rarediseases.info.nih.gov]
The eyebrows, eyelashes, and scalp hair may become prematurely gray or white (beginning as early as mid-childhood, adolescence, or early adulthood).
[rarediseases.org]
[…] skin pigmentation 0007443 Synophrys Monobrow Unibrow [ more ] 0000664 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Variable expressivity 0003828 White
[rarediseases.info.nih.gov]
eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge
[rarediseases.info.nih.gov]
[…] skin pigmentation 0007443 Synophrys Monobrow Unibrow [ more ] 0000664 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Variable expressivity 0003828 White
[rarediseases.info.nih.gov]
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]
eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge
[rarediseases.info.nih.gov]
[…] forelock, eyebrows, or eyelashes Dystopia canthorum – lateral displacement of inner canthi First degree relative with Waardenburg syndrome Minor criteria Hypopigmented patches
[dermnetnz.org]
Note the bit of white hair and bit of white eyebrow. Waardenburg Syndrome Type 2 is caused by a MITF Gene mutation.
[colorgenetics.info]
eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge
[rarediseases.info.nih.gov]
[…] skin Eyebrows extending toward middle of face Nose abnormalities Premature graying of the hair (by age 30) Waardenburg syndrome type 2 is defined as having all the features
[verywell.com]
Underdeveloped nasal alae ; White eyebrow ; White eyelashes ; White forelock ; Wide nasal bridge Associated Genes PAX3 (Withdrawn symbols: HUP2, WS1 ) Mouse Orthologs Pax3
[mousephenotype.org]
Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 White eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes
[rarediseases.info.nih.gov]
[…] skin Eyebrows extending toward middle of face Nose abnormalities Premature graying of the hair (by age 30) Waardenburg syndrome type 2 is defined as having all the features
[verywell.com]
[…] irides in the left eye and a broad nasal root (d) Click here to view Figure 2: Clinical photographs showing white forelock, blue eyes, white eyebrows and eyelashes, broad
[e-fjs.org]
[…] forelock, eyebrows, or eyelashes Dystopia canthorum – lateral displacement of inner canthi First degree relative with Waardenburg syndrome Minor criteria Hypopigmented patches
[dermnetnz.org]
The minor criteria are skin hypopigmentation (congenital leukoderma/white skin patches), medial eyebrow flare (synophrys), broad nasal root, hypoplasia of alae nasi, and premature
[ijpd.in]
[…] forelock White eyelashes White eyebrow Piebaldism Abnormal bleeding Ocular albinism Cirrhosis Diplopia Spastic paraparesis Blue irides Abnormality of movement Retinopathy
[mendelian.co]
In some patients, white macules also manifest on eyebrow and eyelash hair either continuously or discontinuously with the white forelock.
[clinicaladvisor.com]
60 Frequent (79-30%) 18 white forelock 33 HP:0002211 19 absent pigmentation of the ventral chest 33 HP:0007542
[malacards.org]
[…] irides in the left eye and a broad nasal root (d) Click here to view Figure 2: Clinical photographs showing white forelock, blue eyes, white eyebrows and eyelashes, broad
[e-fjs.org]
Figure 1: Clinical photographs showing white forelock and partial albinism in the patient, (a and b) blue eyes and white eyebrows and eyelashes, (c) while his father has heterochromia
[e-fjs.org]
We identified three male patients fulfilling the diagnostic criteria for WS (white forelock with the involvement of eyebrows and eyelashes, pigmentary disturbances of the
[e-fjs.org]
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]
Abnormality of head or neck Blepharophimosis Mandibular prognathia Oral cleft Smooth philtrum Synophrys Telecanthus Thick eyebrow Underdeveloped nasal alae White eyebrow White
[www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]
White eyebrow White eyelashes White forelock Abnormality of the musculoskeletal system Congenital elevation of scapula Mandibular prognathia Supernumerary ribs Supernumerary
[www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]
eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 White hair 0011364 Showing of 22 | Last updated: 5/1/2019 If you need medical
[rarediseases.info.nih.gov]
[…] through HPO Albinism 0001022 Autosomal recessive inheritance 0000007 Spotty hyperpigmentation Spotty increased pigmentation 0005585 Vitiligo Blotchy loss of skin color 0001045 White
[rarediseases.info.nih.gov]
eyebrow Sprengel anomaly Myelomeningocele Lacrimation abnormality White forelock White hair Hypopigmentation of the fundus Supernumerary ribs White eyelashes Partial albinism
[mendelian.co]
(synophyrys), white forelock, heterchromia iridis, and deafness.
[neoreviews.aappublications.org]
(50%) Partial or total heterochromia irides (25%) Circumscribed albinism of the frontal head hair or white forelock (20%) Sensorineural deafness, unilateral or bilateral
[emedicine.medscape.com]
The medial eyebrows and the eyelashes may be involved.
[pediatricsconsultant360.com]
eyebrow Anteriorly placed anus Abnormality of the face Underdeveloped supraorbital ridges Limited elbow extension Gingival overgrowth Palmoplantar keratoderma Small nail
[mendelian.co]
About 90% of patients with classic piebaldism have a white forelock that emanates from a midline, symmetrical, triangular, elongated or diamond-shaped white macule.
[pediatricsconsultant360.com]
[…] or yellowish scales that may feel oily or dry and are located on the scalp, eyelids, eyebrows, or lips.
[medical-dictionary.thefreedictionary.com]
The signs and symptoms include: White flakes on shoulders of dark clothing Itchy scalp Scaly facial skin Recurrent ear " eczema " Facial rash over eyebrows, nose, and ears
[emedicinehealth.com]
It can affect the scalp, eyebrows, forehead, face, folds around the nose and ears, the chest, armpits, and groin.
[encyclopedia.com]
Other symptoms of vitiligo can include: white skin hairs where your skin is white early onset of gray or white hair on your head (less than 35 years of age) white eyebrows
[familydoctor.org]
Often, a patch of hair on the head, an eyelash or eyebrow turns white. Color loss often occurs for a year or two, and then stops.
[apderm.com]
eyelashes, or beard white patches in your mouth (mainly in people who have a darker skin color to begin).
[familydoctor.org]
Major criteria - dystopia of the canthi ( internal canthus of each eye is displaced laterally) (type I) - abnormalities of pigmentation: white hair (from birth), white eyelashes
[sites.uclouvain.be]
Physical examination revealed pallor, icterus, hepato-splenomegaly, cervical lymphadenopathy and white hair with silvery sheen on scalp, eyebrows and eyelashes [Figure 1].
[jlponline.org]
Cutaneous examination showed silvery, white discoloration of the scalp hair, eyebrows, eyelashes, and vellus hair over the rest of the body [Figure 1].
[cdriadvlkn.org]
The hair, including eyelashes and eyebrows are white from birth.
[wohproject.org]
and eyelashes that was an admixture of black and white hair, hypopigmented cafe-au-lait macules, psychomotor retardation, ataxia, and increased deep tendon reflexes.
[omim.org]
[…] matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Spinocerebellar ataxia 15 MAN1B1-CDG Ichthyosis cheek eyebrow syndrome Wolf-Hirschhorn syndrome
[checkrare.com]
Patient denied any manipulation of eyebrows. Examination revealed tiny white-to-brownish nodes on the tips of hairs of bilateral eyebrows.
[idoj.in]
Figure 1: Clinical image showing tiny white-to-brownish nodes on the tips of hairs of eyebrows Click here to view Figure 2: Trichoscopy using videodermoscopy shows broken
[idoj.in]
Based on trichoscopic examination, a diagnosis of TN isolated to eyebrows was made.
[idoj.in]
Some of the most common ones include: difficulties with tear production a small colon an abnormally shaped uterus a cleft palate partially albino skin white eyelashes or eyebrows
[medicalnewstoday.com]
[…] forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
[orpha.net]
Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock).
[ghr.nlm.nih.gov]
eyebrow White eyelashes Ileus Alacrima Demyelinating peripheral neuropathy White hair Spasmus nutans Ptosis Progressive neurologic deterioration Hyperkeratosis Pancytopenia
[mendelian.co]
[…] the cochlea Myelin outfoldings Meconium ileus Spotty hyperpigmentation Peripheral hypomyelination Hypertelorism Decreased lacrimation Cerebral dysmyelination Microcolon White
[mendelian.co]
Simon and Mick are best friends in their 60s whose bushy white eyebrows and ear tufts made ‘em look like fuzzy mountain goats.
[vancouver.dubhlinngate.com]
eyebrow Need help with a diagnosis?
[mendelian.co]
(50%) Partial or total heterochromia irides (25%) Circumscribed albinism of the frontal head hair or white forelock (20%) Sensorineural deafness, unilateral or bilateral
[emedicine.medscape.com]
Myopia Cataract Ptosis Muscular hypotonia Global developmental delay Profound hearing impairment Albuminuria High myopia Hematuria Proteinuria Conductive hearing impairment White
[mendelian.co]
