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
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
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.
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.
Common facial abnormalities include Long narrow face Prominent nose Prominent jaw Large ears Open mouth Thick eyebrows Other common features include[citation
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
[…] of developmental milestones Mental deterioration in childhood [ more ] 0002376 Generalized-onset seizure 0002197 Intellectual disability, profound IQ less than 20 0002187 Long
narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia
[…] characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long
Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability
long, narrow face Head And Neck Eyes: hypotelorism Skeletal Hands: oligodactyly absent thumb proximally placed thumb Skeletal Skull: hypoplastic mandible Head And Neck Teeth
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
[…] 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
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[…]
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[…]
Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies
Abstract Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular
* long thin hands & feet * eye abnormalities including shaky or wiggly eye movement (nystagmus) * unusually looking long narrow face * small head; those some persons have
narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency.
[…] restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long
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
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
[…] related phenotypes are malar flattening and intellectual disability Disease Ontology : 12 An intellectual disability that is characterized by small head size (microcephaly), long
Her mother also had tall stature and a long narrow face. The baby and her mother were suspected of having familial SS.
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.
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
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.
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
narrow face, and unusually large ears and nose.
RAPADILINO SYNDROME Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate Statements Identifiers Sitelinks Wikipedia
[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
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
People with Fragile X share some physical features, including a long narrow face with prominent jaw bones and ears.
Large testes (Macroorchidism) Large ears Long, narrow face Soft skin Poor eyesight Large body size Square chin Frontal bossing 7.
More subtle physical symptoms can include a long, narrow face with prominent ears, joint laxity and flat feet.
Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
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.
Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures.
narrow face, broad based nose, eversion of lower lip, microgeny, dysplastic ears, deep palmar and plantar furrows, scoliosis, and only mild retardation.
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
Craniofacial features in Lujan-Fryns syndrome include prominent forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge
The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead
Craniofacial features include prominent forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge, short and deep philtrum
narrow face Broad thumbs and halluces Congenital anomaly (corpus callosum, anal, cardiac, skeletal) Hypotonia, constipation, or feeding problems Characteristic behavior
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
Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis. It was characterized in 1985. See also Branchio-oto-renal
Lachiewicz–Sibley syndrome_sentence_5 Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis.
Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis. It was characterized in 1985. See also Branchio-oto-renal syndrome
[…] and smooth philtrum, full lower lip Long, narrow face, high anterior hair line, floating forehead, broad medial eyebrows that taper laterally, hypertelorism, long palpebral
narrow face, high anterior hair line, floating forehead, broad medial eyebrows that taper laterally, hypertelorism, mildly downslanted palpebral fissures, high nasal bridge
micrognathia long narrow face Prenatal Manifestations Amniotic Fluid: polyhydramnios Genitourinary External Genitalia Male: ambiguous genitalia urogenital sinus Genitourinary
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
(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
Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes
[…] and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).
[…] and thin digits (arachnodactylia), facial dysmorphism (a narrow face and a small sized chin, retrognathia, blepharoptosis).
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
The characteristic face consisted of vertically long face, narrow palpebral fissures, fleshy nose with a broad nasal root, flattened malar region, and retrognathia ( Figure
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
He alsoshowed a long narrow face, prognathism with midfacehypoplasia, upslanting palpebral fissures, divergentsquint, and a noisy voice; the lips and themouth cornershad radial
narrow face with a high forehead, low-set ears, severe ptosis, epicanthal folds, and prominent supraorbital ridges.
[…] 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
Other features include a long narrow face and scoliosis.
They tend to be tall with a characteristic facial appearance (long, narrow face with a highly arched roof of the mouth and crowded teeth).
Skeletal features include pectus carinatum, micrognathia, knee and hip contractures, elongated birth length, narrow face, slender/long digits, and macrocephaly.
narrow face, large ears, long straight nose, prominent mandible, general asthenia, narrow chest, long thin digits, adducted thumbs, contractures, seizures, autistic features
brachydactyly, genital anomalies, hypotonia, in some cases hemoglobin H inclusions in erythrocytes XNP, (XH2) Xq13.3 Christianson syndrome Short stature, microcephaly, long
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
Respiratory assistance may be required. 2) Late infancy - Early childhood: Presents with delayed milestones, marfanoid features (slender body habitus, long narrow face, high
Other features include a long narrow face and scoliosis.
She had facial diplegia with bilateral ptosis, a long narrow face, a high arched palate, a tent-shaped mouth, micrognathia, and scoliosis.
On examination, she had moderate diffuse weakness more pronounced in ankle extensors, long narrow face, scoliosis and rigid spine.
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.