[…] jaw Small lower jaw [ more ] 0000347 Muscular hypotonia Low or weak muscle tone 0001252 Narrow forehead Decreased width of the forehead 0000341 Narrow palpebral fissure Small
[rarediseases.info.nih.gov]
It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip
[findexpertmd.com]
It is characterized by skull ( craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip
[rarediseases.info.nih.gov]
fissures epicanthal folds small palpebral fissures Head And Neck Nose: wide nasal bridge short nose Head And Neck Ears: low-set ears small ears malformed ears squared-off
[malacards.org]
fissures Epicanthus Frontal bossing Macrocephaly Microretrognathia Short nose Short philtrum Small palpebral fissure Abnormality of the abdomen Aganglionic megacolon Constipation
[familydiagnosis.com]
The three sons share with their mother the following facial features: long midface, myopathic face, wide nasal bridge, short nose, short palpebral fissures, and low set, small
[ashg.org]
fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele
[orpha.net]
palpebral fissures 14/14 6/8 Highly arched eyebrows 9/12 8/15 Nose Flat bridge 27/28 20/28(prominent bridge 6/28) Anteverted nostrils 30/32 10/17 Mouth Long philtrum 32/32
[publications.fondationlejeune.org]
[…] definition Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral
[orpha.net]
Child had dysmorphism in the form of sagging cheeks, maxillary hypoplasia, prognathism, posteriorly placed large and low set ears, hypertelorism, down slanting palpebral fissures
[idoj.in]
Further specific findings include late closure of the fontanel, characteristic facial appearance with down-slanting palpebral fissures, short nose, small mouth and, in some
[nature.com]
Such features include downward slanting of the opening between the eyelids (down slanting palpebral fissures), a broad, flat bridge of the nose, abnormally large nostrils
[rarediseases.org]
Presentation[edit] In addition to small palpebral fissures, features can include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus
[en.wikipedia.org]
Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which are small palpebral fissures (blepharophimosis), drooping
[ncbi.nlm.nih.gov]
All patients of the two families demonstrated typical features of BPES type II, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus without female
[ncbi.nlm.nih.gov]
Definition A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the
[uniprot.org]
Presentation [ edit ] In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus
[en.wikipedia.org]
Patients experience a combination of congenital eyelid anomalies: small palpebral fissures, ptosis, telecanthus, and epicanthus inversus.
[bmcmedgenet.biomedcentral.com]
The most consistently found features are pre- and postnatal growth retardation, small palpebral fissures and mental deficiency.
[ncbi.nlm.nih.gov]
Documentation of all 3 facial abnormalities (smooth philtrum, thin vermillion border, and small palpebral fissures) 2. Documentation of growth deficits 3.
[aap.org]
Ocular signs are prevalent, including small palpebral fissure, microcornea, strabismus, myopia, astigmatism, and optic nerve hypoplasia.
[ncbi.nlm.nih.gov]
palpebral fissures, prominent nasal bridge with a broad nose, and large ears.
[orpha.net]
[…] common clinical features include intrauterine and postnatal growth retardation, microcephaly, prominent occiput, and facial dysmorphism characterized by up or down-slanted small
[orpha.net]
palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags.
[signssymptoms.org]
[…] head, narrow face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin
[signssymptoms.org]
This rare genetic medical condition is characterized by some abnormal looking facial features including small head, narrow face, eye anomalies, small mandible, upslanting
[signssymptoms.org]
The 4 year old has talipes equinovarus, bilateral radial reduction defects, small palpebral fissures, small mouth, and skin changes.
[digitalcommons.hsc.unt.edu]
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]
Her 22 month old sibling was born with bilaterally absence of her tibias, bilateral radial ray reduction defects, small mouth, and small palpebral fissures, but normal GH.
[digitalcommons.hsc.unt.edu]
Except for deeply-set eyes and small palpebral fissures with slight telecanthus, our ocular findings have not previously been described in mosaic trisomy 9.
[ncbi.nlm.nih.gov]
Physical features included: scaphocephaly, frontal atrophy with deep forehead creases, microphthalmia with small palpebral fissures, broad nasal bridge, short philtrum, small
[ashg.org]
The ocular findings in mosaic trisomy 9 have included deeply-set eyes, small, slightly mongoloid palpebral fissures, telecanthus or hypertelorism, microphthalmos, alacrimia
[healio.com]
fissures, deep-set globes, strabismus, low-set posteriorly rotated and malformed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, low
[medical-dictionary.thefreedictionary.com]
Definition Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures
[uniprot.org]
[…] recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow palpebral
[medical-dictionary.thefreedictionary.com]
Narrow palpebral fissure Small opening between the eyelids, Decreased size of palpebral fissure, Narrow eyelid opening, Small palpebral fissures [more] Reduction in the vertical
[rarediseases.oscar.ncsu.edu]
fissure Small opening between the eyelids 0045025 Showing of 12 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice, you can look for
[rarediseases.info.nih.gov]
Aortic valve stenosis Narrowing of aortic valve 0001650 Autosomal recessive inheritance 0000007 Cupped ear Cup-shaped ears Simple, cup-shaped ears [ more ] 0000378 Narrow palpebral
[rarediseases.info.nih.gov]
The clinical phenotype includes severe mental retardation, microcephaly, up-slanting palpebral fissures, small testes, and stature shorter than that of nonaffected males.
[plu.mx]
Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration
[malacards.org]
The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum.
[malacards.org]
[…] ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism).
[orpha.net]
[…] intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small
[orpha.net]
Synopsis agenesis of the corpus callosum telecanthus small palpebral fissures Pierre-Robin sequence abnormal ears cardiac malformations severe respiratory failure pulmonary
[humpath.com]
Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose
[pubcasefinder.dbcls.jp]
Multiple congenital anomaly consisting of agenesis of corpus callosum; telecanthus; short palpebral fissures; small nose with anteverted nares; Pierre Robin sequence; malformed
[accessanesthesiology.mhmedical.com]
Adams–Oliver syndrome Other names Congenital scalp defects with distal limb anomalies[1] Specialty Pediatrics, dermatology, orthopedic surgery Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and[…]
[en.wikipedia.org]
Narrow palpebral fissure Small opening between the eyelids, Decreased size of palpebral fissure, Narrow eyelid opening, Small palpebral fissures [more] Reduction in the vertical
[rarediseases.oscar.ncsu.edu]
fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine
[rarediseases.info.nih.gov]
[…] including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral
[rarediseases.info.nih.gov]
The clinical features included microcephaly, hypertelorism, depressed nasal bridge, bilateral epicanthus, small palpebral fissures, low set ears with small auricles, wide-spaced
[nature.com]
palpebral fissures.
[malacards.org]
He had minor facial anomalies, including a triangular face, downslanting palpebral fissures, and a small mouth.
[findzebra.com]
Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting
[malacards.org]
[(Am J Hum Genet 1980: 32:64A] is similar to our case with respect to IUGR, small palpebral fissures, and ear anomalies.
[pubmed.ncbi.nlm.nih.gov]
Atkins Medicine Journal of medical genetics 1973 Clinical findings included microcephaly, low-set malformed ears, small palpebral fissures, enophthalmos, bulbous nose, micrognathia
[semanticscholar.org]
low hairline, congenital heart disease, skeletal abnormalities, small penis, hypoplastic scrotum, and a Dandy-Walker like deformity of the fourth ventricle.
[semanticscholar.org]
He had facial dysmorphism with small palpebral fissures, small round ears, a broad nasal bridge, short philtrum, small mouth, marked prognathism, and a short neck.
[jmg.bmj.com]
These consisted of short palpebral fissures, mid-face hypoplasia, a short philtrum, prognathism, a narrow mouth and small ears.
[nature.com]
These include a small narrow eye opening (blepharophimosis, short palpebral fissure), flat facial profile (maxillary hypoplasia), and a relatively prominent nose.
[rarediseases.org]
palpebral fissures and oral stoma, and dysplastic 'satyr' ears.
[findzebra.com]
fissure Periorbital fullness Prominent nasal tip Sparse scalp hair Thin upper lip vermilion Widely spaced teeth Abnormality of limbs Adducted thumb Clinodactyly Long fingers
[ncbi.nlm.nih.gov]
Affected infants may also have widely spaced eyes (ocular hypertelorism) that are prominent (exophthalmos); unusually wide, downwardly slanting eyelid folds (palpebral fissures
[rarediseases.org]
Rare multiple congenital contracture syndrome characterised by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and
[ncbi.nlm.nih.gov]
fissures, small mouth, and high arched palate.
[rarediseases.oscar.ncsu.edu]
fissures); deep folds in the skin between the nose and lips (nasolabial folds); and a small mouth with a high, arched roof of the mouth (palate).
[rarediseases.oscar.ncsu.edu]
The consensus phenotype consists of trigonocephaly with prominent forehead, small palpebral fissures, flat nasal bridge, low-set dysplastic ears, anteverted nostrils, long
[hindawi.com]
fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele
[orpha.net]
palpebral fissures 14/14 6/8 Highly arched eyebrows 9/12 8/15 Nose Flat bridge 27/28 20/28(prominent bridge 6/28) Anteverted nostrils 30/32 10/17 Mouth Long philtrum 32/32
[publications.fondationlejeune.org]
Figure 3: Showing triangular-elongated face, widow’s peak, puffy enlarged lips, ocular hypertelorism, ptosis, slight antimongoloid obliquity of palpebral fissure, small and
[peertechzpublications.com]
fissures), a small nose with nostrils that are flared forward (anteverted nares), an underdeveloped upper jawbone (maxilliary hypoplasia), and a widow’s peak.
[rarediseases.org]
Patient usually presents with round face, prominent metopic ridge, widow’s peak hair anomaly, ocular hypertelorism, ptosis, antimongoloid obliquity of palpebral fissure, small
[peertechzpublications.com]
The following characteristics were observed at birth: small palpebral fissures, epicanthus, microphthalmia, wide nasal root, teletelia, mild axial hypotonia, arachnodactyly
[analesdepediatria.org]
The ears may be low-set and the mouth is small with very thin vermillion borders, and downturned corners [32].
[ojrd.biomedcentral.com]
He had facial dysmorphism with small palpebral fissures, small round ears, a broad nasal bridge, short philtrum, small mouth, marked prognathism, and a short neck.
[jmg.bmj.com]
(A) Facial dysmorphism: short palpebral fissures, short philtrum, and thin lips. (B) Short neck and small ears. (C) Muscular build. (D) Brachydactyly.
[jmg.bmj.com]
Key points Myhre syndrome is characterised by facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism, short philtrum, small mouth), short stature,
[jmg.bmj.com]
