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]
[…] and narrow face short philtrum high nasal bridge autism gait ataxia chest-wall deformity long and tapering fingers microcephaly cleft lip and palate horseshoe kidney hypospadias
[humpath.com]
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]
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]
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
[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]
Affected males may have a large, prominent nose with a high, narrow nasal bridge; a narrow prominent jaw (prognathism); and a long sometimes narrow face.
[rarediseases.org]
Long-narrow face, anteverted and mild enlarged pinnae and bulbous nose are the characteristic facial features of NHS.
[nature.com]
They all had a long-narrow face (Fig. 2a), large anteverted and mild enlarged pinnae (Fig. 2b). II1 displayed a bulbous nose (Fig. 2c).
[nature.com]
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]
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]
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]
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]
[…] 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]
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]
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]
Large testes (Macroorchidism) Large ears Long, narrow face Soft skin Poor eyesight Large body size Square chin Frontal bossing 7.
[slideshare.net]
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]
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]
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]
Description Lujan-Fryns syndrome: note the long narrow face, maxillary hypoplasia, small mandible, long nose, thin upper lip and receding chin Date 2007 Source Griet Van Buggenhout
[commons.wikimedia.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]
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]
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]
[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]
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]
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]
[…] palate, pointed chin, a long narrow face and a head shape that is similar to an inverted pear.
[rarediseases.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]
Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
[medlineplus.gov]
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 limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).[2] This disease is named after J.
[en.wikipedia.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]
Both groups shared mental retardation, a prominent nose, a long, narrow, and asymmetric face, severe scoliosis with chest deformity, a pointed chin, and micrognatia, hypotonia
[e-cep.org]
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]
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]
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]
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]
