Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes.
[dnatesting.uchicago.edu]
The reason for the disparity in incidence is controversial. characteristic facies long palpebral fissures eversion of the lower eyelid arched eyebrows the sparseness of the
[radiopaedia.org]
Her ocular features suggestive of Kabuki syndrome included left upper eyelid congenital ptosis, lagophthalmos, arched eyebrows with temporal sparing of hair, long horizontal
[ncbi.nlm.nih.gov]
Facial features are striking: arched eyebrows; proptosis, hypertelorism; downslanting palpebral fissures; broad nasal bridge; macrostomia and dysplastic, low-set ears.
[ncbi.nlm.nih.gov]
Highly arched eyebrow Thick, flared eyebrows, Bowed and upward slanting eyebrows, High arched eyebrows, Arched eyebrows, High, rounded eyebrows, Broad, arched eyebrows [more
[rarediseases.oscar.ncsu.edu]
eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Microphthalmia Abnormally small eyeball
[rarediseases.info.nih.gov]
Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate.
[malacards.org]
These result in the typical facial dysmorphism and include hypertelorism, blepharoptosis, blepharophimosis, and highly arched eyebrows.
[disorders.eyes.arizona.edu]
The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in
[malacards.org]
The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in
[ncbi.nlm.nih.gov]
AB - The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched eyebrows,
[research.manchester.ac.uk]
Abnormality of head or neck Blepharophimosis Cleft palate Cleft upper lip Epicanthus inversus Facial cleft Highly arched eyebrow Abnormality of limbs Clinodactyly Preaxial
[ncbi.nlm.nih.gov]
eyebrows, and greater degree of retrognathia.
[ncbi.nlm.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]
Features include 5 : facial appearance high arched eyebrows long eyelashes down-slanting palpebral fissures broad nasal bridge/beaked nose high arched palate mild micrognathia
[radiopaedia.org]
[from SNOMEDCT_US] Show allHide all Abnormality of head or neck Abnormal facial shape Brachycephaly Frontal bossing High palate Highly arched eyebrow Macrocephalus Microcephaly
[ncbi.nlm.nih.gov]
eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypertelorism Wide-set eyes Widely spaced
[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]
Orofacial examination: hypertelorism, big and large nose, prominent glabella, antimongoloid palpebral fissures and high arched eyebrows.
[scielo.iec.gov.br]
The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and
[ncbi.nlm.nih.gov]
Arched eyebrows. Down-slanting eyes. Widely set eyes (hypertelorism). Short upper lip (short philtrum). Downturned corners of the mouth. Small lower jaw.
[mun-h-center.se]
eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypertelorism Wide-set eyes Widely spaced
[rarediseases.info.nih.gov]
Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized
[uniprot.org]
Distinctive facial features common in cerebro-facio-thoracic dysplasia include a wide, short skull (brachycephaly); highly arched eyebrows or eyebrows that grow together in
[medlineplus.gov]
eyebrow 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]
[…] of 5th 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
[rarediseases.info.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]
[…] tone Low muscle tone [ more ] 0001290 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more
[rarediseases.info.nih.gov]
Misalignment of upper and lower dental arches [ more ] 0000689 Drumstick terminal phalanges Drumstick shaped digital bones 0006129 Generalized hypotonia Decreased muscle
[rarediseases.info.nih.gov]
The reason for the disparity in incidence is controversial. characteristic facies long palpebral fissures eversion of the lower eyelid arched eyebrows the sparseness of the
[radiopaedia.org]
Kabuki inclusion criteria (29370)
- At least 3 of the typical dysmorphic features: - Arched eyebrows - Sparse lateral one third of the eyebrows - Long palpebral fissures -
[panelapp.genomicsengland.co.uk]
(B) Image of the patient with arched eyebrows, long palpebral fissures and wide nasal bridge, facial characteristics of kabuki syndrome.
[dovepress.com]
eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hyperactivity More active than typical
[rarediseases.info.nih.gov]
Constipation 0002019 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Generalized hirsutism Excessive hairiness over body 0002230 Highly arched
[rarediseases.info.nih.gov]
Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate.
[malacards.org]
eyebrow Prominent nasal bridge Wide nasal bridge Abnormality of limbs Limited elbow movement Abnormality of the eye Hypertelorism Ptosis Strabismus Abnormality of the genitourinary
[ncbi.nlm.nih.gov]
The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in
[malacards.org]
Features Sex Tight/thick facial skin Blepharophimosis Telecanthus Reduced facial movement Arched/ sparse eyebrows Frontal upsweep Pinna anomaly Bulbous nose Long philtrum
[docksci.com]
He was born with the characteristic NMLFS dysmorphic features, including tight, glistening facial skin with dimpling, blepharophimosis, arched eyebrows, bi-temporal narrowing
[docksci.com]
eyebrows, flat and broad nose, long philtrum, distinctive ears, upswept frontal hairline, short and broad neck, and developmental delay (OMIM: 608156) [Shieh et al., 2006
[docksci.com]
eyebrows - High nasal bridge - Hydrocephaly - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Ptosis - Renal failure - Scoliosis - Seizures
[csbg.cnb.csic.es]
Distinctive facial features characteristic of Joubert syndrome include a 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
[ghr.nlm.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
[medlineplus.gov]
Distinctive facial features characteristic of Joubert syndrome include a broad forehead, arched eyebrows, eyelid ptosis, widely spaced eyes, triangle-shaped open mouth configuration
[news-medical.net]
eyebrows, a bulbous upturned nose, and micrognathia.
[genecards.org]
[…] the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round-shaped face, arched
[genecards.org]
Macrocephaly is common, along with high arched eyebrows, flattening of the malar region, and epicanthic folds.[4] Pathological short stature is possible, and a characteristic
[en.wikipedia.org]
eyebrows Downward slanting eyes Small chin and lower jaw that is receding Short stature Feeding difficulties, including gastroesophageal reflux disease (GERD) Dental problems
[dovemed.com]
[…] both prenatally and postnatally Speech and language delays may be mild, moderate, or severe Abnormal facial features that include: Large-sized head in many Rounded forehead Arched
[dovemed.com]
eyebrows 9/12 8/15 Nose Flat bridge 27/28 20/28(prominent bridge 6/28) Anteverted nostrils 30/32 10/17 Mouth Long philtrum 32/32 26/32 Small mouth 8/11 9/20 (large mouth
[publications.fondationlejeune.org]
(ocular hypertelorism); upwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes’ inner corners (epicanthal folds); and/or highly arched
[rarediseases.org]
Distinctive facial features characteristic of Joubert syndrome include a 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]
Abnormality of head or neck Downslanted palpebral fissures Epicanthal fold High forehead Highly arched eyebrow Open mouth Prominent nasal bridge Short philtrum Tented upper
[ncbi.nlm.nih.gov]
eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hydrocephalus Too much cerebrospinal fluid
[rarediseases.info.nih.gov]
Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High forehead 0000348 Highly arched
[rarediseases.info.nih.gov]
Midface hypoplasia, prognathism, hypertelorism, long palpebral fissures, arched eyebrows, broad nasal bridge and tip, cleft palate (rare), short philtrum, downturned corners
[iofbonehealth.org]
eyebrows, or eyebrows that meet in the midline widely spaced teeth or eyes hearing loss excessive hair growth myopia dental abnormalities In mild Cornelia de Lange syndrome
[childrenshospital.org]
There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism.
[ncbi.nlm.nih.gov]
Clinical diagnosis is based on a characteristic facies – low frontal hair line, short nose, triangular nasal tip, crescent shaped mouth, upturned nose, and arched eyebrows
[ncbi.nlm.nih.gov]
Highly arched eyebrow Thick, flared eyebrows, Bowed and upward slanting eyebrows, High arched eyebrows, Arched eyebrows, High, rounded eyebrows, Broad, arched eyebrows [more
[rarediseases.oscar.ncsu.edu]
These include highly arched eyebrows, an increased distance between the inner corners of the eyes (telecanthus), a narrowing of the eye opening (blepharophimosis), skin folds
[encyclopedia.pub]
[…] lateral flare Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Palpebral fissures, vertically narrow Hypertelorism Epicanthus
[databases.lovd.nl]
eyebrows, and downslanting and vertically narrow palpebral fissures, consistent with WSS.
[news-medical.net]
Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.
[uniprot.org]
Disease definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows
[orpha.net]
Key overlapping features with Baraitser-Winter syndrome include intellectual disability, microcephaly, congenital ptosis, high-arched eyebrows, ocular coloboma and short stature
[orpha.net]
Patient 1 at age 24 years: Facial features with arched eyebrows, ptosis, flat midface, thin upper lip, low-set and posteriorly angulated ears, and low posterior hairline Hands
[ncbi.nlm.nih.gov]
Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears, and a
[malacards.org]
Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a
[ncbi.nlm.nih.gov]
[…] ptosis and blepharophimosis require most children to adopt a chin-up backwards head-tilt position and to recruit the frontalis in elevating the lids, leading to raised, arched
[eyerounds.org]
[…] ptosis and blepharophimosis require most children to adopt a chin-up backwards head-tilt position and to recruit the frontalis in elevating the lids, leading to raised, arched
[webeye.ophth.uiowa.edu]
On examination, patient had slightly developed backward head tilt position and raised arched eyebrows. On ocular examination, the visual acuity was 6/18 on both eyes.
[bijojournal.org]
These include arched eyebrows, upward slanting eyes, large ears, abnormal teeth, and large nostrils. The head can be flattened at the back.
[thinkgenetic.com]
As a child and adult he had a low anterior hairline, coarse hair, and laterally arched eyebrows.
[jmg.bmj.com]
[…] in our case were also noted by Grammatico et al. 4 Thick eyebrows were noted by Rudd et al 22 and thin, high arched eyebrows by Funderburket al.23 Epicanthic folds and upward
[jmg.bmj.com]
