The distinctive physical features considered characteristic of ATS are: broad forehead, hypoplastic mandible, hypotelorism, low-set ears, digit clinodactyly, and 2-3 syndactyly
[genome.jp]
Affected patients are prone to periodic paralysis, prolonged QT syndrome with cardiac dysrhythmias, and subtle facial findings, e.g., broad forehead with narrow maxilla or
[nursing.unboundmedicine.com]
Clinical examination revealed typical facial dysmorphic features of ATS: broad forehead, triangular shape of the face, hypertelorism, microstomia, low-set ears, and mandibular
[jpccr.eu]
forehead, pointed mandible, and bulbous nasal tip. rickets and other bony deformities are common, especially in the vertebral column.
[medical-dictionary.thefreedictionary.com]
The 12-month-old twin sisters have broad foreheads, deep-set eyes, pointed chins, and triangular faces with jaundice.
[ncbi.nlm.nih.gov]
forehead, long, straight nose, deep-set eyes, posterior embryotoxon in the eye, cardiovascular abnormalities, vertebral defects, and nephropathy.
[medical-dictionary.thefreedictionary.com]
More on Head abnormality » Broad forehead : A broad forehead may be normal or may indicate an abnormal congenital syndrome.
[familydiagnosis.com]
forehead Abnormality of the skeletal system Seizures Short nose Cortical gyral simplification Short chin Macrocephaly Oxycephaly Long nose Obesity Triangular face Failure
[mendelian.co]
More on Broad forehead » Cardiovascular system abnormality : Summary Any abnormality of the cardiovascular system. 3, 4 ... ...
[familydiagnosis.com]
In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set
[odont.ku.dk]
Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large
[rarediseases.info.nih.gov]
forehead Eyes that are set wide apart; downslanting eyes Low-set and unusually-shaped ears Prominent nose Thin lips Cleft palate and palate Small and/or receding lower jaw
[dovemed.com]
[…] moderate or severe Speech and language delays that are mostly significant; absent or severely delayed speech Abnormal facial features that include: Small-sized head with broad
[dovemed.com]
These may or may not include: a broad forehead a uni-brow thick and/or arched eyebrows eye abnormalities almond-shaped eyes a short up-turned nose other nasal abnormalities
[2q23.org]
[…] skull 0000248 Broad forehead Increased width of the forehead Wide forehead [ more ] 0000337 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209
[rarediseases.info.nih.gov]
0001250 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 30%-79% of people have these symptoms Ataxia 0001251 Brachycephaly Short and broad
[rarediseases.info.nih.gov]
Broad forehead MedGen UID: 338610 •Concept ID: C1849089 • Finding Width of the forehead or distance between the frontotemporales is more than two standard deviations above
[ncbi.nlm.nih.gov]
Abnormality of head or neck Absence of Stensen duct Absent lacrimal punctum Aplasia of the parotid gland Broad forehead Carious teeth Conical incisor Dacryocystitis Delayed
[ncbi.nlm.nih.gov]
Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent
[ncbi.nlm.nih.gov]
forehead, Prominent nasal bridge, Hypertrichosis, Postnatal growth retardation, Cognitive impairment, Hypodontia, Underdeveloped nasal alae, Visual impairment, Short stature
[fdna.health]
OMIM® : 57 Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad
[malacards.org]
The major manifestations of this syndrome include short stature decreased bone age craniofacial anomalies hypertelorism broad forehead broad nasal bridge short nose with anteverted
[radiopaedia.org]
forehead Broad hallux phalanx Broad thumb Cleft eyelid Downslanted palpebral fissures Glaucoma Long philtrum Proptosis Ptosis Occasionally present symptoms in 5-29% of the
[dovemed.com]
Hypertelorism Hypospadias Large fontanelles Low-set ears Posteriorly rotated ears Shawl scrotum Wide nasal bridge Frequently present symptoms in 30-79% of the cases: Bifid scrotum Broad
[dovemed.com]
More on Broad face » Broad forehead : A broad forehead may be normal or may indicate an abnormal congenital syndrome.
[familydiagnosis.com]
[…] face ; Broad forehead ; Cognitive impairment ; Cutis marmorata ; Generalized hypotonia ; Global developmental delay ; Hydronephrosis ; Hypoplasia of the corpus callosum ;
[mousephenotype.org]
At 33 weeks of gestation, a dead fetus was delivered with a body weight of 1536g (<5(th) centile); relative macrocephaly; a broad face; prominent forehead; hypertelorism;
[ncbi.nlm.nih.gov]
Symptoms of Carnevale syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Blepharophimosis Broad forehead Broad philtrum
[familydiagnosis.com]
[from OMIM] Show allHide all Abnormality of head or neck Blepharophimosis Broad forehead Broad philtrum Cleft palate Cleft upper lip Depressed nasal tip Downslanted palpebral
[ncbi.nlm.nih.gov]
[…] skull 0000248 Broad forehead Increased width of the forehead Wide forehead [ more ] 0000337 Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Diabetes
[rarediseases.info.nih.gov]
[…] not available through HPO Absent axillary hair 0002221 Absent facial hair 0002550 Autosomal dominant inheritance 0000006 Basilar impression 0005758 Brachycephaly Short and broad
[rarediseases.info.nih.gov]
Percent of people who have these symptoms is not available through HPO Abnormality of the rib cage 0001547 Autosomal recessive inheritance 0000007 Babinski sign 0003487 Broad
[rarediseases.info.nih.gov]
Appearance The very typical facial characteristics of Mannosidosis are a coarse face, a prominent forehead, a flattened nasal bridge, a small nose, and a broad mouth.
[ismrd.org]
forehead Increased width of the forehead Wide forehead [ more ] 0000337 Cerebellar atrophy Degeneration of cerebellum 0001272 Cerebral atrophy Degeneration of cerebrum 0002059
[rarediseases.info.nih.gov]
[…] of cardiovascular system morphology Microtia Postnatal growth retardation Inability to walk Cognitive impairment Gait ataxia Focal seizures Sleep disturbance Hyporeflexia Broad
[mendelian.co]
forehead Cerebellar atrophy Epileptic encephalopathy Infantile onset Thin upper lip vermilion Micropenis Ataxia Encephalopathy Cryptorchidism Gastroesophageal reflux Ventriculomegaly
[mendelian.co]
forehead Elongated face Large, prominent ears Strabismus High arched palate Malocclusion of teeth Hand calluses (due to self-injury) Dermatoglyphics: ↑radial loops, whorls
[intellectualdisability.info]
[…] www.fragilex.org.uk TABLE 1: Common physical, behavioural and developmental features of fragile-X syndrome Physical features Behavioural Features Developmental Features Broad
[intellectualdisability.info]
The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak
[ncbi.nlm.nih.gov]
Characteristic features include a round face with a broad forehead, a broad nasal bridge with a short stubby nose and anteverted nostrils, hypertelorism, and a shawl (saddlebag
[whonamedit.com]
The major manifestations of this syndrome include short stature decreased bone age craniofacial anomalies hypertelorism broad forehead broad nasal bridge short nose with anteverted
[radiopaedia.org]
forehead, posteriorly angulated ears, long philtrum, thin upper lip, high arched palate, and a small mandible.
[wwww.unboundmedicine.com]
Sings and symptoms of Williams syndrome include distinct facial features (broad forehead, short nose with a broad tip, full cheeks, wide mouth with full lips, and dental problems
[medicinenet.com]
[…] features, renal ultrasonography, echocardiography, advanced bone age Weaver syndrome Small chin, broad forehead, hypertelorism, long philtrum, camptodactyly Clinical suspicion
[aafp.org]
forehead are noted in all patients as well as large ears.
[malacards.org]
Clinical description Marked hypertelorism and broad forehead are noted in all patients as well as large ears.
[orpha.net]
[…] characteristic facial appearance, cutis laxa and progressive bone sclerosis.EpidemiologyNine cases have been reported in the literature.Clinical descriptionMarked hypertelorism and broad
[malacards.org]
Additional clinical characteristics described here include particular facial characteristics (high anterior hairline, broad forehead, smooth philtrum, thin upper vermillion
[ncbi.nlm.nih.gov]
A particular facies was also observed, consisting of high anterior hairline, broad forehead, smooth philtrum, and thin upper vermilion border.
[findzebra.com]
forehead ; Cardiomegaly ; Carious teeth ; Congestive heart failure ; Coxa valga ; Cutaneous photosensitivity ; Decreased body weight ; Expanded metacarpals with widened medullary
[mousephenotype.org]
The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed
[ncbi.nlm.nih.gov]
In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia
[ncbi.nlm.nih.gov]
Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set
[uniprot.org]
Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
[orpha.net]
/flat forehead) Chest Narrow thorax (chest) Ability to touch shoulders together Small scapula Small or absent clavicles (collarbones) with sloping shoulders Short ribs Cervical
[ccdsmiles.org]
[…] women is 4’9″ – 4’10” Head & Neck Delayed closure of fontanelles (soft spots) Large, open soft spot at birth that may close or remain open throughout life Parietal bossing (broad
[ccdsmiles.org]
Temtamy et al.(2003) described a broad forehead, downward slanting palpebral fissures, hypertelorism, small and prominent philtrum, malar hypoplasia and curved upper lip,
[ashg.org]
forehead, depressed nasal bridge, and prominent upper incisors [[Figure 7] and [Figure 8]].
[proquest.com]
Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose
[ncbi.nlm.nih.gov]
Physical examination at the present time revealed short stature, high-pitched voice and characteristic craniofacial features including triangular face, broad forehead, broad
[academic.oup.com]
forehead & low nasal bridge.
[hopkinsmedicine.org]
forehead, low nasal bridge and telecanthus ✓ ✓ Characteristic ocular findings Yellowish dots in retinal mid peripheral region Mulibrey nanism in a sibling ✓ Minor signs Peculiar
[academic.oup.com]
Sings and symptoms of Williams syndrome include distinct facial features (broad forehead, short nose with a broad tip, full cheeks, wide mouth with full lips, and dental problems
[medicinenet.com]
Distinct “elfin” facial features comprising of low set nasal bridge, broad nasal tip, broad forehead and broad lips.
[symptoma.com]
Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips
[medicinenet.com]
The facial features include prominent mandible, pugilistic appearance, orofacial cleft, broad flat nasal bridge and jaw, partial adontia, high broad forehead, broad uvula,
[cags.org.ae]
forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft,
[orpha.net]
[…] moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad
[orpha.net]
The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears.
[flybase.org]
forehead), congenital heart defects and unusual pectus deformity.
[orpha.net]
On physical examination, he had a triangular face with a broad forehead, antimongoloid deviation of palpebral fissures, low-set and rotated ears (Figs. 2 and 3) He presented
[reumatologiaclinica.org]
Postnatal facial features that may be seen with two-dimensional (2D) and three-dimensional (3D) US include a broad forehead, smaller lower facies with pointed chin (giving
[radiologykey.com]
RSS is characterized by severe intrauterine growth retardation, postnatal short stature, asymmetry of the face, body, and limbs, short and incurved fifth fingers, broad forehead
[ncbi.nlm.nih.gov]
forehead and hypoplastic mandible, right upper and lower limb rhizomelia, clinodactyly of the little fingers, micro-penis, and (unilateral) cryptochidism.
[ncbi.nlm.nih.gov]
forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted nostrils Small jaw Thick lips Prominent eyebrows Short stature Large head Obesity Large testes Gap in
[checkorphan.org]
Showing of 34 | 80%-99% of people have these symptoms Broad forehead Increased width of the forehead Wide forehead [ more ] 0000337 Broad nasal tip Broad tip of nose Broad
[rarediseases.info.nih.gov]
Showing of 34 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Broad forehead Increased width of the forehead Wide forehead [ more ] 0000337
[rarediseases.info.nih.gov]
Characteristic facial features include macrocephaly, prominent broad forehead, hypertelorism, midface hypoplasia, short upturned nose with depressed nasal bridge and flared
[dnatesting.uchicago.edu]
forehead, widely spaced eyes, and dental problems.
[wiki.ggc.edu]
Affected individuals also have distinctive facial features, such as a broad forehead, prominent and widely spaced eyes, a short nose with an upturned tip, a wide nasal bridge
[encyclopedia.pub]
forehead and hypertelorism.
[ncbi.nlm.nih.gov]
Retardation is usually severe, and the facial features consist of a prominent broad forehead and hypertelorism (not usually marked).
[ispub.com]
Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia
[ncbi.nlm.nih.gov]