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]
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
[ghr.nlm.nih.gov]
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]
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]
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
[medlineplus.gov]
[…] of developmental milestones Mental deterioration in childhood [ more ] 0002376 Generalized-onset seizure 0002197 Intellectual disability, profound IQ less than 20 0002187 Long
[rarediseases.info.nih.gov]
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]
Summary Clinical characteristics. Lenz microphthalmia syndrome (LMS) is characterized by unilateral or bilateral microphthalmia and/or clinical anophthalmia with malformations of the ears, teeth, fingers, skeleton, and/or genitourinary system. Microphthalmia is often accompanied by microcornea and glaucoma. Coloboma is[…]
[ncbi.nlm.nih.gov]
Nance–Horan syndrome Other names Cataract X-linked with Hutchinsonian teeth This condition is inherited in an X-linked dominant manner. Specialty Ophthalmology Nance–Horan syndrome is a rare X-linked dominant syndrome characterized by congenital cataracts leading to profound vision loss, characteristic dysmorphic[…]
[en.wikipedia.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]
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]
[…] restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long
[orpha.net]
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]
[…] related phenotypes are malar flattening and intellectual disability 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.
[malacards.org]
Sotos syndrome: a genetic condition that leads to a characteristic facial appearance (long, narrow face, reddened cheeks, high forehead, small chin) as well as delayed mental
[medicinenet.com]
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]
People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower
[hon.ch]
narrow face, and unusually large ears and nose.
[brighthub.com]
RAPADILINO SYNDROME Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate Statements Identifiers Sitelinks Wikipedia
[wikidata.org]
[from ORDO] Show allHide all Abnormality of head or neck Blepharophimosis High palate High, narrow palate Long face Narrow palpebral fissure Short chin Slender nose Abnormality
[ncbi.nlm.nih.gov]
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]
People with Fragile X share some physical features, including a long narrow face with prominent jaw bones and ears.
[mencap.org.uk]
Large testes (Macroorchidism) Large ears Long, narrow face Soft skin Poor eyesight Large body size Square chin Frontal bossing 7.
[slideshare.net]
More subtle physical symptoms can include a long, narrow face with prominent ears, joint laxity and flat feet.
[spectrumnews.org]
Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
[malacards.org]
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]
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]
Craniofacial features include prominent forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge, short and deep philtrum
[ojrd.biomedcentral.com]
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]
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]
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] See also Branchio-oto-renal syndrome
[en.linkfang.org]
[…] and smooth philtrum, full lower lip Long, narrow face, high anterior hair line, floating forehead, broad medial eyebrows that taper laterally, hypertelorism, long palpebral
[academic.oup.com]
narrow face, high anterior hair line, floating forehead, broad medial eyebrows that taper laterally, hypertelorism, mildly downslanted palpebral fissures, high nasal bridge
[academic.oup.com]
micrognathia long narrow face Prenatal Manifestations Amniotic Fluid: polyhydramnios Genitourinary External Genitalia Male: ambiguous genitalia urogenital sinus Genitourinary
[malacards.org]
face 31 very rare (1%) HP:0000275 10 long face 31 very rare (1%) HP:0000276 11 protruding ear 31 very rare (1%) HP:0000411 12 ventriculomegaly 31 very rare (1%) HP:0002119
[malacards.org]
(1%) HP:0000252 6 short stature 31 very rare (1%) HP:0004322 7 intrauterine growth retardation 31 very rare (1%) HP:0001511 8 micrognathia 31 very rare (1%) HP:0000347 9 narrow
[malacards.org]
Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes
[linkedlifedata.com]
[…] and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).
[findzebra.com]
[…] and thin digits (arachnodactylia), facial dysmorphism (a narrow face and a small sized chin, retrognathia, blepharoptosis).
[medcraveonline.com]
narrow face, small chin, ear pits and other minor ear anomalies) without a specific recognizable pattern Speech delay (isolated, or in combination with other cognitive delays
[c22c.org]
The characteristic face consisted of vertically long face, narrow palpebral fissures, fleshy nose with a broad nasal root, flattened malar region, and retrognathia ( Figure
[journals.plos.org]
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
[umm.vdsl2tenders.pw]
He alsoshowed a long narrow face, prognathism with midfacehypoplasia, upslanting palpebral fissures, divergentsquint, and a noisy voice; the lips and themouth cornershad radial
[documents.tips]
narrow face with a high forehead, low-set ears, severe ptosis, epicanthal folds, and prominent supraorbital ridges.
[genome.jp]
[…] facial features suggested that patients with MAP2K1 mutations showed macrostomia and horizontal shape of the palpebral fissures, whereas those with MAP2K2 mutations had a long
[genome.jp]
Other features include a long narrow face and scoliosis.
[emedicine.medscape.com]
They tend to be tall with a characteristic facial appearance (long, narrow face with a highly arched roof of the mouth and crowded teeth).
[encyclopedia.com]
Skeletal features include pectus carinatum, micrognathia, knee and hip contractures, elongated birth length, narrow face, slender/long digits, and macrocephaly.
[misc.medscape.com]
narrow face, large ears, long straight nose, prominent mandible, general asthenia, narrow chest, long thin digits, adducted thumbs, contractures, seizures, autistic features
[pediatrics.aappublications.org]
brachydactyly, genital anomalies, hypotonia, in some cases hemoglobin H inclusions in erythrocytes XNP, (XH2) Xq13.3 Christianson syndrome Short stature, microcephaly, long
[pediatrics.aappublications.org]
Prominent facial weakness and ptosis are often present; associated findings may include dysmorphic features such as dolichocephaly, a long, narrow face, and a high-arched
[uptodate.com]
Respiratory assistance may be required. 2) Late infancy - Early childhood: Presents with delayed milestones, marfanoid features (slender body habitus, long narrow face, high
[anestesiarianimazione.com]
Other features include a long narrow face and scoliosis.
[emedicine.medscape.com]
She had facial diplegia with bilateral ptosis, a long narrow face, a high arched palate, a tent-shaped mouth, micrognathia, and scoliosis.
[jamanetwork.com]
On examination, she had moderate diffuse weakness more pronounced in ankle extensors, long narrow face, scoliosis and rigid spine.
[link.springer.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]
