Low set ears and hairline. Dental problems, such as a high arched palate. Hearing loss and ear infections. Heart abnormalities. Diabetes and hypothyroidism.
[akronchildrens.org]
[…] posterior hairline Low hairline at back of neck 0002162 Low-set ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more
[rarediseases.info.nih.gov]
Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.
[web.archive.org]
During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad
[ncbi.nlm.nih.gov]
Symptoms Clenched hands Crossed legs (preferred position) Feet with a rounded bottom (rocker-bottom feet) Low birth weight Low-set ears Mental deficiency Small head ( microcephaly
[web.archive.org]
Babies born with trisomy 18 can have heart and kidney problems, a small head with low-set ears, a chest with an unusual shape, and crossed legs.
[myhealth.alberta.ca]
[…] may include: Absent or extra kidney, and other problems with kidney or bladder An underdeveloped bone in the midface Unsteady or stiff walking gait Downward-slanted eyes Low-set
[mountsinai.org]
[…] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set
[medical-dictionary.thefreedictionary.com]
Prominent and beaked nose, hypoplasia of the maxilla, low-set ears, micrognathia, enamel hypoplasia, talon cusps, highly arched eyebrows and long eyelashes are the most common
[symptoma.com]
An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal
[medlineplus.gov]
We describe a 20-year-old female patient whose clinical findings mostly fall into this syndrome, except for the presence of slightly low-set ears.
[ncbi.nlm.nih.gov]
ears Low set ears Lowset ears [ more ] 0000369 Metaphyseal widening Broad wide portion of long bone 0003016 Narrow nose Decreased nasal breadth Decreased nasal width Thin
[rarediseases.info.nih.gov]
View map Stories of Hallermann Streiff Syndrome HALLERMANN STREIFF SYNDROME STORIES VIEWS BY SURPRISE normal pregnancy. normal birth. due to low set ears and big forhead recommended
[diseasemaps.org]
Some of them include: Long face with prominent upper jaw Low set ears Down slanting mouth Cleft palate Rheumatoid arthritis Heart, immune, endocrine system and nervous system
[nicklauschildrens.org]
Associated Problems Long face with prominent upper jaw Underdeveloped lower jaw Low set ears Prominent nose with narrow nasal passages Thin upper lip with a down-slanted mouth
[cincinnatichildrens.org]
These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or
[mayoclinic.org]
Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set
[gosh.nhs.uk]
The most common external ear anomalies include low-set ears, asymmetric ears, or small or absent ear lobes. The degree of hearing loss varies from mild to severe.
[encyclopedia.com]
Ear anomalies (95-100%) include low-set lop or cup-shaped outer ear with deficient cartilage of the outer pinna and a triangular concha, middle ear ossicle malformations,
[orpha.net]
ears, and brachydactyly.
[link.springer.com]
He had mild symmetrical brachycephaly, bilateral microcornea, alternating bilateral esotropia, hypoplasia of the mid face, low set ears, high arched palate, frontal bossing
[annsaudimed.net]
[…] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set
[icd9data.com]
Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin
[britannica.com]
[…] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set
[symptoma.com]
The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral
[ncbi.nlm.nih.gov]
It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence
[icd9data.com]
Cutis aplasia (missing portion of the skin/hair) Prominent heel Microcephaly Low-set ears Cleft palate or hare lip Collection Procedure • Amniotic fluid Discard the first
[cytogenx.com]
ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Median cleft lip Central cleft upper lip 0000161 Microphthalmia Abnormally small
[rarediseases.info.nih.gov]
Distinctive physical findings include hypertelorism, micrognathia, low-set ears, high-arched or cleft palate, short stature, clinodactyly, syndactyly, and a broad nasal root
[humpath.com]
Our patient's physical exam was remarkable for slightly posteriorly rotated low set ears, bradycardic heart rate with frequent ectopic beats, shortened fourth distal phalange
[jacc.org]
QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set
[orpha.net]
We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated
[ncbi.nlm.nih.gov]
set ears with posterior rotation.
[ncbi.nlm.nih.gov]
Other anomalies were noted including a pseudo cleft lip, left branchial sinus, and low set ears with posterior rotation.
[synapse.koreamed.org]
ears, and short neck.
[iofbonehealth.org]
This can cause birth defects such as skull deformities, cleft lip, low set ears, bushy eyebrows, and down slanted eyes.
[diseaseinfosearch.org]
[…] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set ears Low set ears Lowset ears [ more ] 0000369 Mitral stenosis 0001718 Multiple renal
[rarediseases.info.nih.gov]
With 5 months, there was a global development disorder, brachycephaly, broad forehead with prominent metopic suture, infraorbital folds, pointed chin, low-set ears, short
[thieme-connect.com]
set ears, and micrognathia.
[rareguru.com]
Global developmental delay; Hearing impairment; Hypertelorism; Inguinal freckling; Intellectual disability; Joint hypermobility; Large hands; Lisch nodules; Long foot; Low-set
[mousephenotype.org]
Description The patient with Schwartz-Jampel syndrome (OMIM#255800) presenting blepharophimosis, pursed lips, low-set ears, and stiffness of facial expression.
[commons.wikimedia.org]
Clinical characteristics include craniofacial anomalies, midface hypoplasia and low-set ears.
[accessanesthesiology.mhmedical.com]
Note the characteristic facial features of Schwartz-Jampel syndrome (C): blepharophimosis, low set ears, pursed lips, and apparent tearful face when asked to smile.
[pedneur.com]
The other one is Timothy syndrome (LQTS 8), featuring autism, baldness, low-set ears, small upper jaw, dysmorphic teeth, syndactyly both in fingers and in toes, along with
[romanianjournalcardiology.ro]
(hypokalaemic periodic paralysis), and characteristic facial and skeletal abnormalities such as a small lower jaw ( micrognathia ), low set ears, and fused or abnormally
[en.wikipedia.org]
[…] syndrome (LQTS 7), whose array of features includes a potassium-sensitive periodic paralysis (triggered by exercise or by glucose ingestion), hypertelorism, widened nose base, low-set
[romanianjournalcardiology.ro]
Our first examination at 6 years of age revealed elongated face with marked ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar
[scielo.br]
set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral
[ebi.ac.uk]
RESUMO We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears
[pesquisa.bvsalud.org]
[…] malformation Conductive hearing impairment Exostosis of the external auditory canal Low-set ears Low-set, posteriorly rotated ears Growth abnormality Short stature Neoplasm
[familydiagnosis.com]
Low-set ears Low-set ears HP:0000369 - 6.1.9 Posteriorly rotated ears Posteriorly rotated ears HP:0000358 - 6.1.10 Auricular pits/fistulas Preauricular sinus HP:0004467 -
[compbio.charite.de]
Low set ear in renal agenesis 10.
[sonoworld.com]
Common physical characteristics of CdLS include: Similar facial features (which may include an upturned nose, eyebrows that meet in the middle, long eyelashes and low-set
[chop.edu]
Almost all the children have similar facial features, including hirsutism (excessive hair), thin and arched eyebrows that often meet in the middle, long eyelashes, low-set
[contact.org.uk]
The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. M ...
[hon.ch]
[…] malformation Conductive hearing impairment Low-set ears Growth abnormality Short stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR
[ncbi.nlm.nih.gov]
Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, downturning
[degruyter.com]
The following symptoms were noted: progressive scoliosis, kyphosis, ptosis, mild deafness, facial cranial dismorphism, low-set ears, low-set hairline, micrognathia, joint
[omicsonline.org]
- It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels
[medicowesome.com]
These include: craniofacial telecanthus, hypertelorism low-set ears, rotated ears +/- thickened helix epicanthus facial asymmetry intellectual disability microgenia low neck
[radiopaedia.org]
Signs and Symptoms: Distinctive facial features: widely set eyes, low set ears.
[care.com]
Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set
[ninds.nih.gov]
set ears, upper lip overhanging the lower lip and congenital contractures.
[semanticscholar.org]
[…] product of consanguineous parents with unremarkable pre-natal and postnatal history and birth weight 2 kg was having microcephaly, micrognathia, micro-ophthalmia, large low
[semanticscholar.org]
[…] nuchal hairline • Low set ears • Cubitus valgus • Hypertrophic cardiomyopathy Turner’s syndrome • Short stature • Webbed neck • Low nuchal hairline • Low set ears • Cubitus
[pharmaexpress.net]
He had dysmorphic triangular facies, hypertelorism, deep set eyes, down slanting palpebral fissures, low set ears, mild prognathia, and deep philtrum, prominent lower lip
[heartindia.net]
[…] levels of growth hormone Deeply grooved philtrum Hypertelorism : Widely spaced eyes Depressed nasal bridge Down -slanting palpebral fissures Low set ears, posteriorly rotated
[pedclerk.bsd.uchicago.edu]
Symptoms via clinical synopsis from OMIM: 58 Head And Neck Ears: low-set ears posteriorly rotated ears Chest External Features: narrow chest Skeletal Pelvis: hip dislocation
[malacards.org]
The neonate had striking anomalies of the face and feet which included low set ears, depressed nasal bridge, marked mandibular hypoplasia, cleft palate and ectrodactyle involving
[ncbi.nlm.nih.gov]
Severe mandibular hypoplasia and low-set ears may be additional features.
[accessanesthesiology.mhmedical.com]
Alghamdi Medicine Children 2022 The reported orofacial manifestations of Sanjad–Sakati syndrome include beaked nose, depressed nasal bridge, enamel hypoplasia, hypodontia, low-set
[semanticscholar.org]
Review Medicine Children 2022 The reported orofacial manifestations of Sanjad–Sakati syndrome include beaked nose, depressed nasal bridge, enamel hypoplasia, hypodontia, low-set
[semanticscholar.org]
Facial features of SSS include low set ears, deep set eyes, thin lips, micrognathia, and a beaked nose [3].
[karger.com]
[…] skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities, bilateral talipes equinovarus, and an unusual facies consisting of low-set
[ncbi.nlm.nih.gov]
Femoral hypoplasia/unusual facies syndrome Relevant markers: Absent femur Absent kidney Bowed femur Fractured femur Hypoplastic femur/s Long philtrum Low set ear/s Mandibular
[phenotip.com]
We report a 19 days old male baby with bilateral femoral hypoplasia and cranio-facial dysmorphism including low set ears, upslanted palpebral fissures, long philtrum with
[banglajol.info]
set ears that are turned back.
[ivami.com]
[…] long, narrow head Widely spaced eyes Wandering eye Outside corners of the eyes that point downward High, narrow roof of the mouth Underdeveloped jaw bones Small lower jaw Low-set
[marfan.org]
[…] protruding eyes (exophthalmos); outside corners of the eyes that point downward (downslanting palpebral fissures); a high, narrow palate; a small lower jaw (micrognathia); and low-set
[encyclopedia.pub]
The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects.
[uniprot.org]
Frontal bossing ; Generalized hypotonia ; Global developmental delay ; Hypertelorism ; Joint hypermobility ; Joint laxity ; Juvenile myelomonocytic leukemia ; Long philtrum ; Low-set
[mousephenotype.org]
She also has curly hair, low-set ears that are rotated backwards, a short neck, pointed chin, Valvular Pulmonary Stenosis, a hole in her heart and widely spaced eyes that
[scijourner.org]
Such craniofacial features often include an unusually small head (microcephaly), malformed or low-set ears, and/or a small jaw (micrognathia).
[diki.pl]
Such craniofacial features often include an unusually small head (microcephaly), malformed or low-set ears, and/or a small jaw ( micrognathia ).
[diki.pl]
[…] physical anomalies "'( "'MPA "'s ) are relatively minor ( typically painless and, in themselves, harmless ) congenital physical abnormalities consisting of features such as low-set
[eng.ichacha.net]