The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short
[research.manchester.ac.uk]
There may also be a subtle pattern of characteristic facial features, including a long, narrow face; a narrow space between the nose and upper lip (short philtrum); a high
[encyclopedia.pub]
Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients.
[research.manchester.ac.uk]
Often, people with Marfan syndrome have a long, narrow face and the roof of the mouth may be higher than normal, causing the teeth to be crowded.
[my.clevelandclinic.org]
A long, narrow face. Crowded teeth because the roof of the mouth is arched. A breastbone that sticks out or caves in. A curved backbone. Flat feet.
[niams.nih.gov]
The signs and symptoms of Marfan Syndrome include: Disproportionately long legs, arms, toes and fingers Extremely tall and slender build Long, narrow face High arched neck
[epainassist.com]
narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septals, and skeletal anomalies.
[semanticscholar.org]
Medicine American journal of medical genetics 1999 The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long
[semanticscholar.org]
Common facial abnormalities include:[citation needed] Long narrow face Prominent nose Prominent jaw Large ears Open mouth Thick eyebrows Other common features include:[citation
[en.wikipedia.org]
Other features seen in many people with Christianson syndrome include a small head size (microcephaly); a long, narrow face with prominent nose, jaw, and ears; an open mouth
[encyclopedia.pub]
narrow face with prominent nose, jaw and ears Abnormal eye movements Open mouth Small size of the head(Microcephaly) Autistic spectrum disorder Diagnosis and Treatment of
[medindia.net]
Long-narrow face, anteverted and mild enlarged pinnae and bulbous nose are the characteristic facial features of NHS.
[nature.com]
Affected males may also have a large, prominent nose with a high, narrow nasal bridge, a narrow prominent jaw, and sometimes a long, narrow face.
[rareguru.com]
(b) A photograph of an affected male (III:1) showing a long and narrow face, broad base to the nose, and a thin nasal bridge.
[jzus.zju.edu.cn]
narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia
[orpha.net]
[…] characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long
[orpha.net]
Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability
[orpha.net]
long, narrow face Head And Neck Eyes: hypotelorism Skeletal Hands: oligodactyly absent thumb proximally placed thumb Skeletal Skull: hypoplastic mandible Head And Neck Teeth
[malacards.org]
face 33 HP:0000275 5 long face 33 HP:0000276 6 hypotelorism 33 HP:0000601 7 cleft upper lip 33 HP:0000204 8 proximal placement of thumb 33 HP:0009623 9 hydronephrosis 33
[malacards.org]
[…] oligodactyly Syndrome: 33 (show all 16) # Description HPO Frequency HPO Source Accession 1 high palate 33 HP:0000218 2 cleft palate 33 HP:0000175 3 micrognathia 33 HP:0000347 4 narrow
[malacards.org]
He has typical morphological features, namely; long narrow face, deep set -set small eyes, beaked nose, large floppy ears and micrognathia, failure to succeed and mild to
[radiopaedia.org]
narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency.
[orpha.net]
</p><p>He has typical morphological features, namely; long narrow face, deep-set small eyes, beaked nose, large floppy ears and micrognathia, failure to succeed and mild to
[radiopaedia.org]
Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies
[ncbi.nlm.nih.gov]
Abstract Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular
[doi.org]
* Long thin hands & feet * Eye abnormalities including shaky or wiggly eye movement (nystagmus) * Unusually looking long narrow face * Small head; those some persons have
[signssymptoms.org]
From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes
[wikidata.org]
Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous
[malacards.org]
[…] and related phenotypes are malar flattening and pectus excavatum Disease Ontology : 12 An intellectual disability that is characterized by small head size (microcephaly), long
[malacards.org]
Her mother also had tall stature and a long narrow face. The baby and her mother were suspected of having familial SS.
[ncbi.nlm.nih.gov]
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.
[uniprot.org]
RAPADILINO SYNDROME Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate Statements Identifiers Sitelinks Wikipedia
[wikidata.org]
Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears
[humpath.com]
[from MedlinePlus Genetics] Show allHide all Abnormality of head or neck Blepharophimosis Cleft palate High palate High, narrow palate Long face Narrow palpebral fissure Short
[ncbi.nlm.nih.gov]
People with Bloom syndrome have a high pitched voice and unique facial features, including a long narrow face, a small jaw, and large ears and nose.
[diseaseinfosearch.org]
narrow face, and unusually large ears and nose.
[brighthub.com]
[…] and body features Lack of subcutaneous fat creates a birdlike appearance, with a long narrow face and prominent nose Relatively large protruding ears Long limbs, particularly
[dermnetnz.org]
Facial features can include a long narrow face, prominent jaw, and large ears.
[clinicaladvisor.com]
People with Fragile X share some physical features, including a long narrow face with prominent jaw bones and ears.
[mencap.org.uk]
The clinical features most frequently observed in our study were long narrow face (63%), prominent ears (27%) and large ears (18%).
[scielo.br]
Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
[malacards.org]
narrow face (especially with bitemporal narrowing) Developmental Delay: Early developmental delay and learning disability Mild to severe intellectual retardation Macrosomia
[krebs-praedisposition.de]
Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures.
[malacards.org]
narrow face, broad based nose, eversion of lower lip, microgeny, dysplastic ears, deep palmar and plantar furrows, scoliosis, and only mild retardation.
[thieme-connect.de]
Nürnberg Further Information Publication History Publication Date: 13 March 2008 (online) Abstract A five year old boy is reported with typical signs of Trisomy 8-Syndrome: long
[thieme-connect.de]
Craniofacial features in Lujan-Fryns syndrome include prominent forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge
[scielo.br]
The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead
[semanticscholar.org]
On examination, the patient presented high stature, prominent forehead, large nose, deep and short filters, long narrow face, low-set ears, small mandible, long arms and fingers
[scielo.br]
Panel de precisión de paraplejia espástica hereditaria La paraplejía espástica hereditaria (HSP) incluye un grupo de enfermedades familiares que se caracterizan por la degeneración progresiva de los tractos corticoespinales responsables del movimiento y la sensación. Las HSP se diferencian en formas «puras» si hay[…]
[igenomix.es]
Short stature, high-pitched voice; Distinct facial features, including a long, narrow face, micrognathism, prominent nose and ears Hypo-pigmented and hyperpigmented areas
[eyewiki.aao.org]
Some of the unique and characteristic Fragile X facial features include a long and narrow face, an arched and high palate, and large ears.
[fdna.health]
Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
[medlineplus.gov]
He had high forehead, long narrow face, down slanted palpebral fissure, large ears, right eye strabismus, and left eye estropia. Fortunately, he had no hearing deficits.
[journals.lww.com]
[…] palate, pointed chin, a long narrow face and a head shape that is similar to an inverted pear.
[rarediseases.org]
Lachiewicz–Sibley syndrome_sentence_5 Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis.
[mediawiki.feverous.co.uk]
Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis.[1] It was characterized in 1985.[1] Oops something went wrong:
[wikiwand.com]
Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis.[1] It was characterized in 1985.[1] See also[edit] Branchio-oto-renal
[en.wikipedia.org]
narrow face Broad thumbs and halluces Congenital anomaly (corpus callosum, anal, cardiac, skeletal) Hypotonia, constipation, or feeding problems Characteristic behavior
[en.wikipedia.org]
Dolichocephaly Frontal hair upsweep Tall forehead Downslanted palpebral fissures Widely spaced eyes Fullness of the upper eyelids Small, simple ears (≤10th percentile) Open mouth Long
[en.wikipedia.org]
With increasing age, the following features develop: hypotonia changes to hypertonia, face becomes long and narrow and supraorbital arch prominent, dental malocclusions arise
[orpha.net]
He had long narrow face, tapering chin, low set ears, and microstomia.
[pubmed.ncbi.nlm.nih.gov]
He was of medium height with a long narrow face, pointy tapering chin, saddle nose, broad nasal alae, low set ears, fused eyebrows, thin lips, and microstomia.
[ncbi.nlm.nih.gov]
narrow face, a high nasal bridge, a bifid nasal tip; and dental anomalies that include radiculomegaly, oligodontia, root dilacerations, malocclusion and delayed eruption.
[jendodon.com]
[…] is characterized by congenital cataract with secondary glaucoma ocular defects; ventricular and atrial septal defects or mitral valve prolapses; facial traits such as a long
[jendodon.com]
narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate
[orpha.net]
Arachnodactyly-intellectual disability-dysmorphism syndrome Disease definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long
[orpha.net]
She had facial diplegia with bilateral ptosis, a long narrow face, a high arched palate, a tent-shaped mouth, micrognathia, and scoliosis.
[jamanetwork.com]
Other features include a long narrow face and scoliosis.
[emedicine.medscape.com]
They had weakness in both proximal and distal muscles and facial diplegia with bilateral ptosis, a long narrow face, a high arched palate, and micrognathia.
[jamanetwork.com]
The clinical examination showed that he is tall with certain craniofacial features, such as acromegaly with a prominent forehead, a long and narrow face, a narrow and long
[brieflands.com]
Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and
[medlineplus.gov]
[…] and narrow face, maxillary hypoplasia, a long nose with a high and narrow nasal bridge, a short and deep philtrum, a thin upper lip, and a deep palate (1).
[brieflands.com]
Reported dysmorphic features that, at present, are uncommon or not associated with this syndrome based on a literature review and include short fingers (5%), long narrow face
[ncbi.nlm.nih.gov]
narrow face 0/9 1/7 N/A 0/16 0/2 0/2 N/A 0/2 N/A 0/1 1/39 (3) Small face 0/9 1/7 N/A 0/16 0/2 0/2 N/A 0/2 N/A 0/1 1/39 (3) Hypertelorism 5/9 1/7 N/A 1/16 0/2 0/2 N/A 0/2
[ncbi.nlm.nih.gov]
N/A N/A 28/83 N/A 0/2 N/A 55/141 (39) Plagiocephaly 4/9 0/7 N/A 0/16 0/2 0/2 N/A 0/2 N/A 0/1 4/39 (10) Broad forehead 5/9 0/7 N/A 1/16 2/2 0/2 N/A 0/2 N/A 0/1 8/39 (21) Long
[ncbi.nlm.nih.gov]
