Facial properties include prominent narrow chin, open mouth, cupped ears with protruding lobes, broad nasal bridge with rounded nasal tip, and wide set eyes.
[mowatwilson.org]
Mowat-Wilson syndrome: a genetic ( inherited ) condition present at birth that features square-shaped face with deep-set, widely spaced eyes, a broad nasal bridge, pointed
[medicinenet.com]
Facial features include square-shaped face with deep-set, widely spaced eyes, broad nasal bridge with a rounded nasal tip and a prominent pointed c read more
[ctgt.net]
bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose
[rarediseases.info.nih.gov]
Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 Wide nose Broad nose Increased breadth of nose Increased nasal
[rarediseases.info.nih.gov]
[…] brow 0000336 Spinal cord compression Pressure on spinal cord 0002176 Temporomandibular joint ankylosis Freezing of jaw joint 0012478 Upper airway obstruction 0002781 Wide nasal
[rarediseases.info.nih.gov]
The most important craniofacial features were brachycephaly, convex/biprotusive profile, flat nasal bridge, closed nasolabial angle, apparent large mouth, and broad lips
[hindawi.com]
The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak
[ncbi.nlm.nih.gov]
Facies hypertelorism (90%) small nose with anteverted nares (90%) broad philtrum (85%) broad nasal bridge (85%) abnormally-shaped auricles (75%) widow's peak (60%) ptosis
[web.archive.org]
bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose
[rarediseases.info.nih.gov]
nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.
[ncbi.nlm.nih.gov]
nasal bridge, and wide mouth with widely spaced teeth.
[ncbi.nlm.nih.gov]
nasal bridge and a wide mouth, and hyperventilation attacks.
[ncbi.nlm.nih.gov]
Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia
[ncbi.nlm.nih.gov]
These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis of the corpus callosum, polysyndactyly
[ncbi.nlm.nih.gov]
nasal bridge.
[orpha.net]
nasal bridge, thin upper lip, and smooth philtrum.
[uniprot.org]
Dysmorphic features included a prominent forehead, high hairline, eversion or notch of the eyelid, broad nasal bridge and thin upper lip.
[uantwerpen.be]
nasal bridge, and a thin upper lip.
[encyclopedia.pub]
nasal bridge Skin Nails Hair Hair: hypertrichosis (face and forehead) Growth Height: short stature Skin Nails Hair Skin: lymphedema Cardiovascular Heart: mitral valve prolapse
[malacards.org]
Both have a broad nasal bridge and lateral displacement of the inner canthi. Pulmonary lymphangiectasia (see 265300 ) was suspected on the basis of radiologic findings.
[lymphedemapeople.com]
Congenital lymphedema, hypoparathyroidism, nephropathy, progressive renal failure, mitral valve prolapse, brachytelephalangy, cataracts, broad nasal bridge, telecanthus.
[accessanesthesiology.mhmedical.com]
nasal bridge, dysplastic auricles, and retrognathia, is presented.
[ncbi.nlm.nih.gov]
bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose
[rarediseases.info.nih.gov]
The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.
[cafamily.org.uk]
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]
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]
A broad nasal bridge, low set ears, and a short neck were reported.
[jmg.bmj.com]
Other dysmorphic features include deep set eyes, broad nasal bridge, long philtrum and 'H' shaped cutaneous dimple on the chin.
[ncbi.nlm.nih.gov]
She has dysmorphic mask like facies which has whistling appearance and other features include deep set eyes, broad nasal bridge, short neck, hypoplasia of the ala nasai, long
[elynsgroup.com]
On examination, the child face is dysmorphic mask like facies with a small mouth and pursed lip having the appearance of whistling, deep set eyes with epiphora, broad nasal
[elynsgroup.com]
nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple.
[ncbi.nlm.nih.gov]
Extra oral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge and beaked nose.
[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]
bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose
[rarediseases.info.nih.gov]
[…] and broad nasal bridge.
[mjdrdypu.org]
Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 30%-79% of people have these symptoms Abnormality of the dentition
[rarediseases.info.nih.gov]
bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also trisomy 21 First Known Use of Down syndrome
[merriam-webster.com]
bridge, protruding tongue, high-arched palate, dental abnormalities, and a short and broad neck.
[symptoma.com]
bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down, Down's, trisomy 21 Comments on Down
[merriam-webster.com]
The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brachydactyly.
[ncbi.nlm.nih.gov]
The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy.
[ncbi.nlm.nih.gov]
The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge,
[ncbi.nlm.nih.gov]
nasal bridge, short nose with upturned nares, large mouth with downturned corners and prominent upper lip.
[orpha.net]
PKS has the following characteristics: low muscle tone facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes sparse
[pkskids.net]
[…] profile, high forehead with temporo-frontal balding, sparseness of eyebrows and lashes, shallow supraorbital ridges, upslanting palpebral fissures, hypertelorism, flat and broad
[orpha.net]
The primary diagnostic criteria [1] include short stature, hypertelorism, a broad nasal bridge, a short nose with anteverted nares, a long philtrum, maxillary hypoplasia with
[jmgims.co.in]
bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also trisomy 21 First Known Use of Down syndrome
[merriam-webster.com]
Anomalies consist of disproportionately short stature, broad and depressed nasal bridge, anteroposteriorly broad chest, kyphosis, protruded abdomen while skeletal radiographs
[indjos.com]
He had coarse facies, patulous lips, a broad nose and a depressed nasal bridge.
[ijaweb.org]
bridge, lumbar lordosis Imaging Short, thick tubular bones, irregular epiphyseal plates; broad, cupped diaphyses; delayed epiphyseal ossification Management Osteotomies for
[medical-dictionary.thefreedictionary.com]
Skull shows a bulging vault, small face and a flat nasal bridge or 'scooped out' glabella. Spine shows marked lumbar lordosis. Frontal bossing, depressed nasal bridge.
[patient.info]
Features Bowing of extremities, waddling gait, limited ROM of major joints, frontal bossing, short stubby fingers, moderate hydrocephalus, depressed nasal bridge, lumbar lordosis
[medical-dictionary.thefreedictionary.com]
The facial abnormalities frequently observed in OFDS-I are nasal alar cartilage hypoplasia, frontal bossing, hypertelorism or dystopia canthorum with broad nasal bridge, and
[jisppd.com]
Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip ); a wide nose with a broad, flat nasal bridge ; and
[ghr.nlm.nih.gov]
nasal bridge Neurologic Central Nervous System: mental retardation delayed psychomotor development Clinical features from OMIM: 612626
[malacards.org]
50. centile); APGAR 3/6/10; no spontaneous respiration; turricephaly with metopic ridge; blepharophimosis, high and broad nasal bridge, small mouth, micrognathia, bilateral
[ssmc-tl.com]
[…] and flat nasal bridge, thick nasal tip, long philtrum, low-set and poorly formed ears, tented upper lip, macrostomia, micrognathia), brachytelephalangy with nail hypoplasia
[jdrntruhs.org]
nasal bridge (23%) Cleft lip (9%) Nodules at corner of mouth (6%) Palate abnormality (30%) Cleft palate (12%) High arched (15%) Bifid uvula (3%) Abnormal genitalia Females
[en.wikibooks.org]
bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose
[rarediseases.info.nih.gov]
Common facial features include a flat and broad nasal bridge; epicanthic folds; wide mouth; short philtrum; everted lower lip; small and slightly receding chin during childhood
[en.wikipedia.org]
Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal
[malacards.org]
[…] mouth Large mouth [ more ] 0000154 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal
[rarediseases.info.nih.gov]
bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 Percent of people who
[rarediseases.info.nih.gov]
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]
The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum.
[ncbi.nlm.nih.gov]
Patients have a distinctive facies characterized by the ''Greek warrior helmet'' appearance (broad nasal bridge continuing to the forehead), visible more clearly before puberty
[orpha.net]
Clinical description Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum
[orpha.net]
[…] eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin.
[uniprot.org]
Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit.
[orpha.net]
nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
[orpha.net]
His obvious symptoms were holes in both sides of the neck (he had surgery at 6 months of age), broad nasal bridge, nasal duct obstruction, pseudocleft of the upper lip, submucos
[jmums.mazums.ac.ir]
[…] branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad
[orpha.net]
Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge.
[uniprot.org]
nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe
[diseaseinfosearch.org]
Typical facial dysmorphism consisting of a broad nasal bridge was noted.
[ajnr.org]
Alopecia, broad nasal bridge, anteverted nostrils, flat philtrum, thin upper lip. C.
[scielo.conicyt.cl]
nasal bridge and nasal tip, hypodontia, oligodontia and occasionally craniosynostosis) and conductive and sensorineural hearing loss.
[orpha.net]
nasal bridge and micrognathia with anomalies of teeth and generalized skeletal dysplasia.
[ncbi.nlm.nih.gov]
Types 1 and 2, FMD and Melnick-Needles syndrome. [1], [2] The most common manifestations include supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad
[joacp.org]
Clinical description Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth.
[orpha.net]
