Individuals with this condition have characteristic facial features, including microcephaly, hypertelorism, medially flared and broad eyebrows, prominent columella, pointed
[ncbi.nlm.nih.gov]
Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin
[uniprot.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
[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]
Cranio-facial features include elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows with the lateral third displaying
[orpha.net]
eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia.
[ncbi.nlm.nih.gov]
[…] microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad
[ncbi.nlm.nih.gov]
The facial appearance is distinctive with coarse features, thick eyebrows, ptosis, deep‐set eyes, a broad‐beaked nose, wide mouth and palate, thick fleshy lips, and prognathism
[onlinelibrary.wiley.com]
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched
[ebi.ac.uk]
[…] 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]
broad nasal bridge and pointed chin.
[ncbi.nlm.nih.gov]
Clinical findings were generalised obesity with a body mass index 95th centile, acanthosis nigricans of the neck, arms with self inflicted lesions, deep-set eyes, straight eyebrows
[ncbi.nlm.nih.gov]
[…] midline, synophrys, and a characteristic arched form of the eyebrows, along with mild hirsutism.
[orpha.net]
Clinical description Facial dysmorphism is characterized by a prominent forehead, wide nasal bridge, hypertelorism, broad anterior fontanelle, midfacial hypoplasia, broad
[orpha.net]
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]
Not to mention the others, Polyphemus son of Poseidon, the fiercest of them, lives here; he has a single eyebrow extending above his single eye and a broad nose astride his
[theoi.com]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Intellectual disability, mild Mental retardation
[rarediseases.info.nih.gov]
[…] finger Fused end and middle bones of little finger Fused end and middle bones of pinkie finger Fused end and middle bones of pinky finger [ more ] 0009244 Highly arched eyebrow
[rarediseases.info.nih.gov]
In addition he shows an extreme muscular hypotonia, cerebellar ataxia, a severe and global developmental delay, characteristic phenotypic features (arciform eyebrows, a broad
[thieme-connect.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]
Minor criteria include skin hypopigmentation (congenital leukoderma/ white skin patches), medial eyebrow flare (synophrys), broad nasal root, hypoplasia alae nasi, and premature
[panafrican-med-journal.com]
[…] iris, and broad high nasal root).
[e-fjs.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]
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]
Common features include a high forehead, broad eyebrows that are wide apart centrally, widely spaced eyes (hypertelorism) that are large and deep set, uplifted ear lobes with
[rarediseases.org]
Thick and arched eyebrows with long eyelashes, downslanted palpebral fissures, low handing columella and hypoplastic maxilla.
[azdoc.site]
Broad thumb and broadened terminal phalanges. 227 Respiratio Case report Prikaz slučaja Figure 2. Typical facial appearance in RTS.
[azdoc.site]
The signs and symptoms of Char Syndrome may include: Broad forehead Broad nasal tip Distal/middle symphalangism of 5th finger Highly arched eyebrow Intellectual disability
[dovemed.com]
Affected individuals may have an unusually small or large head (micro- or macrocephaly); a wide mouth with full, prominent lips; a broad nasal tip; a low nasal bridge; and
[rarediseases.org]
Additional features may include thick eyebrows, long eyelashes, and generalized excessive hair growth (hypertrichosis) with the exception of the scalp hair, which tends to
[rarediseases.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]
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]
Figure 1: Autosomal recessive cutis laxa in two siblings showing progeroid appearance, downward slanting palpebral fissures, broad flat nose, sparse eyebrows, a vertically
[ijpd.in]
broad nasal bridge, bulbous tip of the nose, large mouth with thin upper lip, long philtrum, prominent earlobes SEC Sonic hedgehog SHH 7q36 600725 Holoprosencephaly, type
[en.wikibooks.org]
[…] forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick
[mendelian.co]
eyebrows/AR/STRA6/#601186 SYNDROMIC MICROPHTHALMIA 10/Microphthalmia/-/-/%611222 SYNDROMIC MICROPHTHALMIA 11/Microphthalmia, optic nerve hypoplasia/AR/VAX1/#614402 SYNDROMIC
[eyewiki.org]
The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly
[mendelian.co]
[…] short palpebral fissures/AD/-/%601349 SYNDROMIC MICROPHTHALMIA 9 (MATTHEW-WOOD SYNDROME)/Anophthalmia, microphthalmia, coloboma, optic nerve hypoplasia, blepharophimosis, broad
[eyewiki.org]
Her clinical features included hypotonia and feeding difficulties during infancy, coarse face with notably prominent forehead, prominent eyebrows, broad flat nasal bridge
[ncbi.nlm.nih.gov]
The boy exhibited a coarse facial appearance characterized by prominent, high-arched eyebrow, broad nose, downward palpebral fissure, high arched palate, hypodontia.
[koreamed.org]
Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick nasal septum Broad nasal septum Broad septum of nose Thick septum of
[rarediseases.info.nih.gov]
Facial features Prominent forehead and eyebrows Downward slanting eyelid slits Wide-set eyes Broad nasal bridge Limb features Large, soft hands with tapered fingers Shortened
[ideas.org.au]
[…] nasal root; hypertrichosis of the medial part of the eyebrows, white forelock, heterochromia iridis; and deaf-mutism.40, 41 There are now four recognised variants of Waardenburg
[nature.com]
Waardenburg syndrome type-I, which had six main features: lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis; prominent broad
[nature.com]
[…] et al. (2009)} described a 7-year-old girl with hypoplastic nails, especially on the fifth digit of each extremity, which were more noticeable on the feet, coarse face, broad
[bio2rdf.org]
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
[mendelian.co]
This includes a flat nasal bridge, broad nose, wide mouth, thick lips, and in some cases, thick eyebrows, long eyelashes, palate malformations, a large tongue (macroglossia
[encyclopedia.com]
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]
[…] nasal tip, and thick eyebrows).
[ncbi.nlm.nih.gov]
We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper
[ncbi.nlm.nih.gov]
[…] genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows
[orpha.net]
The signs and symptoms of Char Syndrome may include: Broad forehead Broad nasal tip Distal/middle symphalangism of 5th finger Highly arched eyebrow Intellectual disability
[dovemed.com]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypoplasia of the corpus callosum Underdevelopment
[rarediseases.info.nih.gov]
Speech delay [ more ] 0000750 Diabetes mellitus 0000819 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Highly arched eyebrow
[rarediseases.info.nih.gov]
[…] nasal root; hypertrichosis of the medial part of the eyebrows, white forelock, heterochromia iridis; and deaf-mutism. 40, 41 There are now four recognised variants of Waardenburg
[nature.com]
[…] nasal root; hypertrichosis of the medial part of the eyebrows, white forelock, heterochromia iridis; and deaf-mutism.40, 41 There are now four recognised variants of Waardenburg
[nature.com]
Waardenburg syndrome type-I, which had six main features: lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis; prominent broad
[nature.com]
Clinodactyly, broad thumbs and toes were observed in the musculoskeletal system. The patient presented with moderate mental retardation, short stature and obesity.
[ncbi.nlm.nih.gov]
Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Irritability Irritable 0000737 Microcephaly Abnormally
[rarediseases.info.nih.gov]
Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate
[ctgt.net]
