nasal bridge Signs and tests [ edit ] Genetic testing for the alpha-L-iduronidase (IDUA) gene Urine tests for extra mucopolysaccharides X-ray of the spinal cord Treatment
[en.wikibooks.org]
nasal bridge Diagnosing Hurler Syndrome A diagnosis of Hurler syndrome can be achieved using the following exams and tests.
[disabled-world.com]
The facial features undergo a marked deterioration, which mainly include a low nasal bridge, flat face, and protruding forehead.
[patienthelp.org]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Frontal bossing
[rarediseases.info.nih.gov]
Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Depressed nasal
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Distal widening
[rarediseases.info.nih.gov]
[…] cavity 0000452 Death in childhood 0003819 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ] 0004325 Depressed nasal
[rarediseases.info.nih.gov]
[…] middle phalanges of the hand Bullet-shaped middle finger bones 0009845 Cerebral atrophy Degeneration of cerebrum 0002059 Choanal stenosis Narrowing of the rear opening of the nasal
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Failure to
[rarediseases.info.nih.gov]
Other clinical features include craniofacial anomalies, a short nose with a broad nasal bridge, epicanthus, cleft palate, and low-set, malformed ears.
[accessanesthesiology.mhmedical.com]
[…] eye 0000567 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Clitoral hypoplasia Small clitoris Underdeveloped clit [ more ] 0000060 Depressed nasal
[rarediseases.info.nih.gov]
[…] cavity 0000452 Cleft palate Cleft roof of mouth 0000175 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened
[rarediseases.info.nih.gov]
[…] and protuberant ears, flat nasal bridge with rounded and bulbous nasal tip and prominent alae nasi, sunken midface, wide mouth with large tongue, relative prognathism Secondarily
[bmcmedgenet.biomedcentral.com]
nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Elevated alkaline
[rarediseases.info.nih.gov]
[…] midface hypoplasia facial hemangioma low-set ears shallow orbits proptosis hypertelorism short nose low nasal bridge anteverted nares macroglossia short neck atrial septal
[humpath.com]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Failure to
[rarediseases.info.nih.gov]
Synopsis failure to thrive postnatal growth deficiency widely patent fontanels and sutures metopic suture extends to nasal root coarse facies high forehead, protruding forehead
[humpath.com]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Depressed
[rarediseases.info.nih.gov]
Small and pointed chin Flat nose and/or nasal bridge Low-set, small ears/Ear asymmetry: Ears are abnormally low set on the head and may be small.
[wikidoc.org]
nasal bridge midface hypoplasia deep-set eyes prominent forehead and chin epicanthic folds low set ears neurological abnormalities developmental delay and intellectual disability
[radiopaedia.org]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Downslanted
[rarediseases.info.nih.gov]
nasal bridge broad, large nasal tip Head And Neck Head: flat occiput microcephaly (-6 s.d.)
[malacards.org]
[…] more ] 0000455 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Chorioretinal dysplasia 0007731 Corneal opacity 0007957 Deep philtrum 0002002 Depressed nasal
[rarediseases.info.nih.gov]
They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears.
[medlineplus.gov]
Depressed nasal bridge Concave nasal bridge, Low nasal root, Retruded bridge of nose, Flat nasal bridge, Concave bridge of nose, Retruded nasal bridge, Flat bridge of nose
[rarediseases.oscar.ncsu.edu]
[…] ears Depressed nasal bridge And another 49 symptoms.
[mendelian.co]
This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal
[medlineplus.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Enlarged
[rarediseases.info.nih.gov]
[…] vertebral bodies 0004634 Curly eyelashes 0007665 Curly hair 0002212 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Depressed nasal
[rarediseases.info.nih.gov]
nasal bridge, delayed eruption of the teeth, and abnormal permanent teeth.
[medicinenet.com]
nasal bridge, delayed eruption of the teeth, abnormal permanent teeth, etc.
[medicine.academic.ru]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dimple chin
[rarediseases.info.nih.gov]
nasal bridge Signs and tests [ edit ] Genetic testing for the alpha-L-iduronidase (IDUA) gene Urine tests for extra mucopolysaccharides X-ray of the spinal cord Treatment
[en.wikibooks.org]
nasal bridge In some states, babies are tested for MPS I as part of the newborn screening tests.
[medlineplus.gov]
Most of the symptoms are thick coarse facial features with low nasal bridge, halted growth, progressive mental retardation, cloudy corneas, deafness, joint disease including
[ukessays.com]
Rudiger et al. (1971) described a brother and sister with coarse facies, prominent forehead, flat nasal bridge, stubby nose, and protuberant upper lip.
[omim.org]
They both had low-pitched, hoarse voices, short digits, palmar flexion contractures, hypoplastic fingernails, and bilateral ureterovesical stenosis.
[omim.org]
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]
Figure 1 Figure 1: Profile of the head: sparse hair, full cheeks, low set ear, up-turned nose. Figure 2 Figure 2: Face: flat nasal bridge with bulbous nasal tip.
[ispub.com]
Patient 5 exhibited hypotonia, a flat nasal bridge, sparse scalp hair, and seizures.
[neurologyindia.com]
Both had relative macrocephaly at birth, curly hair, large ear lobes, epicanthic folds, a low nasal bridge, thick lips, a short and wide nose, a short neck, a barrel chest
[link.springer.com]
His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with
[ncbi.nlm.nih.gov]
These include macrocephaly, downward-slanted palpebral fissures, curly hair, low-set ears, depressed nasal bridge, large tongue, and hypertrophied gingiva.2 Overall, these
[jamanetwork.com]
The facies has certain characteristics too, such as a round shape with wide-set eyes, low nasal bridge, micrognathia, and midface retrusion.
[symptoma.com]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Enlarged
[rarediseases.info.nih.gov]
People with Kniest dysplasia have an unusually flat face with protruding eyes, and a low nasal bridge.
[rarediseases.org]
The flat and low nasal bridge is also a characteristic of Pfeiffer syndrome. 3-year-old with Pfieffer syndrome with retruded midface (from middle of eyes to upper jaw) and
[chop.edu]
nasal bridge Breathing difficulties Hypertelorism (wide-set eyes) Small eye sockets, causing bulging, prominent eyes (proptosis) Hearing loss Visual problems Dental problems
[houstoncraniofacial.com]
nasal bridge and widely spaced eyes (ocular hypertelorism).
[ojrd.biomedcentral.com]
DISCUSSION Acrodysostosis is characterized by short hands with peripheral dysostosis, a flat nasal bridge, skeletal abnormalities of the mandible, skull and spine and mental
[hormones.gr]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Depressed
[rarediseases.info.nih.gov]
nasal bridge with narrow nasal passages.
[medicinenet.com]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Ectopic ossification
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Elevated
[rarediseases.info.nih.gov]
AHO is characterized by short stature, obesity, round face with flat nasal bridge, brachydactyly, subcutaneous ossification and possible / variable developmental delay.
[hopkinsmedicine.org]
bridge, enamel hypoplasia, hypodontia, low-set ears, posteriorly rotated ears, deep-set eyes, microcephaly, microdontia, micrognathia, prominent forehead, retrognathia and
[semanticscholar.org]
nasal bridge, small maxilla, ogival palate and tong with fissures and papillary hypertrophy (2).
[zdoc.site]
Alghamdi Medicine Children 2022 The reported orofacial manifestations of Sanjad–Sakati syndrome include beaked nose, depressed nasal bridge, enamel hypoplasia, hypodontia,
[semanticscholar.org]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Developmental
[rarediseases.info.nih.gov]
Many affected individuals also have a prominent forehead; unusually flattened midfacial regions (midfacial hypoplasia), with a low nasal bridge; loss of transparency of the
[rarediseases.org]
Medial facial hypoplasia, depressed nasal bridge, low implantation of auricular pavilions.
[scielo.conicyt.cl]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Frontal bossing
[rarediseases.info.nih.gov]
bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.
[orpha.net]
The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears).
[rarediseases.info.nih.gov]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Gingival
[rarediseases.info.nih.gov]
Abnormality of head or neck Abnormality of the dentition Anteverted nares Broad face Depressed nasal bridge Downturned corners of mouth Gingival overgrowth Infra-orbital crease
[ncbi.nlm.nih.gov]
[…] ears, broad nasal bridge, high arched palate, short neck, mild 2-3 cutaneous toe syndactyly, retrognathia, and decreased reflexes.
[jmg.bmj.com]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Full cheeks
[rarediseases.info.nih.gov]
Round face with low flattened nasal bridge Bony changes in hands and feet involving: Short bones in fingers and toes giving short stubby hands and feet (Fig 1) Short bones
[hypopara.org.uk]
[…] eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Depressed nasal
[rarediseases.info.nih.gov]
[…] muscule tone (hypotonia), failure to thrive, mildly unusual facial features (broad forehead, widely-spaced eyes (hypertelorism), big and low-set ears, flat nasal bridge,
[rarediseases.org]
[…] to thrive, short stature, mildly unusual facial features (broad forehead, widely-spaced eyes (hypertelorism), big and low-set ears, flat nasal bridge, and thin upper lip)
[healthjade.net]
[…] ears, flat nasal bridge, prominent frontal eminence Table 2.
[mdpi.com]
bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Glaucoma
[rarediseases.info.nih.gov]
Individuals with Marshall syndrome manifest ocular hypertelorism, hypoplasia of the maxilla and nasal bones, flat nasal bridge and small upturned nasal tip ...
[ibis-birthdefects.org]
Flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small lower jaw, and palate abnormalities are possible, all in varying degrees.
[encyclopedia.com]
nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Ectropion
[rarediseases.info.nih.gov]
bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ;
[mousephenotype.org]
[…] platelet count 0001873 30%-79% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Depressed
[rarediseases.info.nih.gov]
Other phenotypic manifestations were as followings ( Figure 1A ): rectangle face, epicanthal folds, low nasal bridge, broad neck with a low posterior hairline, and mental
[dovepress.com]
posteriorly positioned ears Flat nasal bridge Anteverted nares Hypertelorism (widely spaced eyes) Epicanthal folds (skin fold over inner corner of eyes) Whole Body Features
[9pminus.org]
Characteristic facial features at birth include a large nasal bridge, round face, wide-spaced eyes, low-set ears, and a down-turned mouth.
[hudsonalpha.org]
Glossy tongue Hypoplastic ala nasi Hypothelia Labial anomalies Low nasal bridge Show images https://www.datagenno.com/utils/files/images/1419/normal Narrow nose Small ears
[datagenno.com]
nasal bridge * Narrow nose * Hypoplastic nostrils * Maxillary hypoplasia * High forehead * Small mouth * Cleft lip * Cleft palate * Cleft palate * Cleft uvula * Velopharyngeal
[checkorphan.org]
nasal bridge, and a thin upper lip.
[escholarship.org]