Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin
[uniprot.org]
eyebrows, prominent or pointed chin, uplifted earlobes and an opened mouth expression.
[dnatesting.uchicago.edu]
Cultured Cells Extracted DNA Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features, which in young children include hypertelorism, medially flared and broad
[dnatesting.uchicago.edu]
Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows
[ncbi.nlm.nih.gov]
(The typical facial features: elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed
[flipper.diff.org]
Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in
[genome.jp]
eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia.
[moh-it.pure.elsevier.com]
[…] microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad
[moh-it.pure.elsevier.com]
[…] syndrome Search Ontology: Synonyms: Definition: A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows
[zfin.org]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Microphthalmia Abnormally small eyeball 0000568
[rarediseases.info.nih.gov]
243310, OMIM:614583, ICD10CM:Q87.0 Definition: A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows
[informatics.jax.org]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypertelorism Wide-set eyes Widely spaced eyes
[rarediseases.info.nih.gov]
The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped
[ncbi.nlm.nih.gov]
[…] slanting of the opening between the eyelids 0000582 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Wide nose Broad
[rarediseases.info.nih.gov]
eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis.
[ncbi.nlm.nih.gov]
An eight-mth-old boy, presenting with broad and dark eyebrows with protruding tongue, microcephaly, short stature and failure to thrive was found to have ring chromosome 9
[ncbi.nlm.nih.gov]
We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad
[ncbi.nlm.nih.gov]
One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias
[diseaseinfosearch.org]
She had microcephaly, hypertelorism, broad nasal bridge, high-arched palate, thick eyebrows, and an IQ of 25. CT showed frontal and temporal lobe atrophy.
[pediatricneurologybriefs.com]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypoplasia of the brainstem Small brainstem Underdeveloped
[rarediseases.info.nih.gov]
Dystopia canthorum, medial eyebrow flare, broad nasal root and hypoplastic alae nasi could not be depicted as it was not possible to trace these features by history alone.
[bioline.org.br]
[…] flare Broad/high nasal root, prominent columella Hypoplastic alae nasi Premature gray hair (age <30 years) Type I Waardenburg syndrome is characterized by evidence of dystopia
[centogene.com]
[…] flare Broad/high nasal root, prominent columella Hypoplastic alae nasi Premature gray hair (before age 30 years) W index: The measurements necessary to calculate the W index
[en.wikibooks.org]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypogonadism Decreased activity of gonads 0000135
[rarediseases.info.nih.gov]
[…] the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Flat face Flat facial shape 0012368 Flat forehead Flattened forehead 0004425 Highly arched eyebrow
[rarediseases.info.nih.gov]
eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger
[orpha.net]
Those features include prominent forehead, downslanting long palpebral fissures, depressed nasal bridge, broad nasal tip, long philtrum, heavy and broad eyebrows, anterior
[cags.org.ae]
[…] characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad
[orpha.net]
Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism
[ghr.nlm.nih.gov]
Facial distinctive features as broad nasal base and thick eyebrow were seen in three patients.
[scielo.br]
Joubert syndrome can include a broad range of additional signs and symptoms.
[ghr.nlm.nih.gov]
eyebrows, deep-set eyes, a bulbous nose, a long narrow upper lip and missing teeth.
[en.wikipedia.org]
Symptoms The common facial features include the sparse hair, large ears, a large and a round nose, broad eyebrows and the missing indentation in the upper lip.
[mybiosource.com]
eyebrows.[5, 9] Oral manifestations include micrognathia, retrognathia, supernumerary teeth, hypodontia, and malocclusion.
[ncbi.nlm.nih.gov]
[…] medial eyebrows, hypertelorism, downslanted palpebral fissures, broad nasal base, long and smooth philtrum and full lower lip).
[academic.oup.com]
eyebrows, high front hairline, broad nasal bridge, long space between the upper lip and nose, and a full lower lip Squinting vision Hearing loss Genital abnormalities in
[patientworthy.com]
eyebrows, and ear abnormalities.
[my46.org]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hyperactivity More active than typical 0000752
[rarediseases.info.nih.gov]
0002019 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Generalized hirsutism Excessive hairiness over body 0002230 Highly arched eyebrow
[rarediseases.info.nih.gov]
Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism
[ghr.nlm.nih.gov]
Facial distinctive features as broad nasal base and thick eyebrow were seen in three patients.
[scielo.br]
Joubert syndrome can include a broad range of additional signs and symptoms.
[ghr.nlm.nih.gov]
Facial distinctive features as broad nasal base and thick eyebrow were seen in three patients.
[scielo.br]
Facial distinctive features as broad nasal base and thick eyebrow were seen in three patients.
[scielo.br]
Typical facial features : Elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows with the lateral third displaying
[en.wikipedia.org]
Typical dysmorphic features include long palpebral fissures with eversion of the lateral third of the lower eyelid and two or more of the following: (1) arched and broad eyebrows
[en.wikipedia.org]
Craniofacial dysmorphic features, including anterior cowlick, broad forehead, sparse eyebrow, prominent eyes, down-slanting palpebral fissures, low-set ears, flat nasal bridge
[ncbi.nlm.nih.gov]
Minor criteria include congenital leukoderma, synophrys/medial eyebrow flare, broad/high nasal root with prominent columella and hypoplastic alae nasi.
[orpha.net]
Minor criteria include skin hypopigmentation (congenital leukoderma); synophrys/medial eyebrow flare; broad high nasal root, prominent columella; hypoplastic nasal alae; premature
[kjophthal.com]
The child also had a broad nasal root. Ocular examination showed sparse eyebrows medically and total heterochromia irides.
[ijpd.in]
Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism
[medlineplus.gov]
low-set ears, and a triangle-shaped mouth.Joubert syndrome can include a broad range of additional signs and symptoms.
[malacards.org]
Joubert syndrome can include a broad range of additional signs and symptoms.
[medlineplus.gov]
Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism
[medlineplus.gov]
Joubert syndrome can include a broad range of additional signs and symptoms.
[medlineplus.gov]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypertelorism Wide-set eyes Widely spaced eyes
[rarediseases.info.nih.gov]
hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip.
[globalgenes.org]
Microcephaly 36% 0 100% Macrocephaly 0 100% 0 Downslanting palpebral fissures 50% 0 0 Broad/prominent forehead 42% 16% (1 ) 0 Glabellar nevus flammeus 0 100% 86% Arched eyebrows
[rarediseasesjournal.com]
eyebrow Ureterocele Periorbital fullness Lower limb asymmetry Neuroblastoma Irregular hyperpigmentation Cutis laxa External ear malformation Cerebellar vermis atrophy Long
[mendelian.co]
eyebrows/AR/STRA6/#601186 SYNDROMIC MICROPHTHALMIA 10/Microphthalmia/-/-/%611222 SYNDROMIC MICROPHTHALMIA 11/Microphthalmia, optic nerve hypoplasia/AR/VAX1/#614402 SYNDROMIC
[eyewiki.org]
eyebrows AR STRA6 #601186 SYNDROMIC MICROPHTHALMIA 10 Microphthalmia - - %611222 SYNDROMIC MICROPHTHALMIA 11 Microphthalmia, optic nerve hypoplasia AR VAX1 #614402 SYNDROMIC
[eyewiki.aao.org]
Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism
[medlineplus.gov]
Joubert syndrome can include a broad range of additional signs and symptoms.
[medlineplus.gov]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypertelorism Wide-set eyes Widely spaced eyes
[rarediseases.info.nih.gov]
She has short stature, microcephaly, broad forehead with high hair implantation; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair, synophris; ocular
[ncbi.nlm.nih.gov]
She has short stature, microcephaly, broad forehead with high hair implantation, central verticil; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair
[ashg.org]
Other eye abnormalities include dystopia canthorum (wherein the medial canthi are laterally displaced), and synophrys or medial eyebrow flare, with a broad nasal root.
[escholarship.org]
sometimes called a “unibrow” broad nasal bridge incomplete nostril development gray hair before the age of 30 A diagnosis of Waardenburg syndrome type 1 requires two major
[healthline.com]
Features include: Sensorineural deafness Typical facial structure, with dystopia canthorum (lateral displacement of the medial corners of the eyes), broad nasal root, and
[dermnetnz.org]
The root of the nose is often prominent and broad, and the eyebrows can be bushy with hair growing between them (synophrys).
[disorders.eyes.arizona.edu]
The child also had a broad nasal root. Ocular examination showed sparse eyebrows medically and total heterochromia irides.
[ijpd.in]
or "unibrow") or medial eyebrow flare Broad or high nasal bridge (uppermost part of the nose) Hypoplasia (incomplete development) of the nostrils Premature gray hair (under
[rarediseases.info.nih.gov]
Distinctive facial features characteristic of Joubert syndrome include broad forehead, arched eyebrows, eyelid ptosis, widely spaced eyes, triangle-shaped open mouth configuration
[news-medical.net]
Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism
[medlineplus.gov]
Distinctive facial features can also occur in Joubert syndrome ; these include a broad forehead, arched eyebrows, droopy eyelids ( ptosis ), widely spaced eyes ( hypertelorism
[ghr.nlm.nih.gov]