Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
[ncbi.nlm.nih.gov]
nasal tips, short fifth fingers, psychomotor retardation and dermatologic abnormalities.
[ncbi.nlm.nih.gov]
The following ten physical features are present more commonly in those with a KMT2D mutation: * Arched eyebrows * Blue sclerae * Broad nasal root * Depressed nasal tip * Large
[flipper.diff.org]
nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted palpebral fissures
[rarediseases.info.nih.gov]
Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed
[rarediseases.info.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Blepharophimosis Broad forehead Broad philtrum Cleft upper lip Craniosynostosis syndrome Depressed nasal tip Downslanted
[ncbi.nlm.nih.gov]
nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Difficulty walking Difficulty
[rarediseases.info.nih.gov]
Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed
[rarediseases.info.nih.gov]
nasal bridge, a broad nasal tip, a long philtrum, natal teeth, a thin upper lip, an everted lower lip, a small chin, low-set ears, preauricular fistulas, a short neck, mild
[unboundmedicine.com]
Those features include prominent forehead, downslanting long palpebral fissures, depressed nasal bridge, broad nasal tip, long philtrum, heavy and broad eyebrows, anterior
[cags.org.ae]
Here we present a 2 year 5 month old girl with Teebi syndrome showing a prominent forehead, hypertelorism, mild exophthalmos, downslanting palpebral fissures, a depressed
[unboundmedicine.com]
"A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation"
[en.wikipedia.org]
nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads.
[en.wikipedia.org]
nasal tip, atypical fingerprints, ear deformity (macrotia or microtia), hypotonia, joint hyperflexibility, ptosis, blue sclera, cafe au lait spot, GU anomalies (e.g. hypospadias
[en.wikipedia.org]
There is also a characteristic facies with a small nose with a rounded tip, a depressed nasal bridge and a long philtrum.
[fdna.health]
nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Epicanthus Eye folds Prominent
[rarediseases.info.nih.gov]
[…] columella with a depressed nasal tip, prominent or cupped ears, and developmental delay or mental retardation.
[eyewiki.aao.org]
nasal tip; large, prominent or cupped ears; cleft lip/palate or high-arched palate; and dental anomalies.
[orpha.net]
nasal bridge, prominent bulbous nasal tip and full lips.
[orpha.net]
nasal bridge, prominent bulbous nasal tip and full lips.Visit the Orphanet disease page for more resources.
[malacards.org]
nasal bridge with bulbous nasal tip, and deep-set eyes.
[mendelian.co]
nasal tip with short columella, and prominent or cupped ears); congenital anomalies (congenital heart defects, renal anomalies); skeletal anomalies (persistent fetal fingertip
[oxfordmedicine.com]
nasal ridge Alopecia totalis Bifid nasal tip Calvarial skull defect Coronal craniosynostosis Scrotal hypoplasia Hypohidrosis Fine hair Encephalocele Abnormal form of the
[mendelian.co]
[…] with the following features: distinctive facial features (long palpebral fissures, eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third sparse, depressed
[oxfordmedicine.com]
/apertura pyriformis hypoplasia/stenosis Short columella/depressed nasal tip Short/small nose Single nare/abouphalia Small/triangular nares/nostrils Thick columella Thin/hypoplastic
[readbag.com]
nasal root Broad nose/nasal bridge Choanal atresia Depressed nasal bridge Flared/thick ala nasi www.orphanet.net/ 5 of 39 Thesaurus of Clinical Signs and Symptoms Anomalies
[readbag.com]
/hypoplasia/arhinia/rudimentary nose Nasal chondritis/nose chondritis Nasal congestion/sinusitis/rhinitis/rhinorrhea Nasal polyposis Nasal septum deviation Nasal/sinus obstruction
[readbag.com]
nasal tip and cleft lip and palate, were also noted (Table 2).
[bmcpediatr.biomedcentral.com]
Accordingly with ACL phenotype, craniofacial dysmorphism, including macrocephaly with frontal bossing, hypertelorism, downslanting palpebral fissures, ptosis and strabismus, depressed
[bmcpediatr.biomedcentral.com]
nasal tip and cleft lip and palate, were also noted (Table 2).
[bmcpediatr.biomedcentral.com]
Accordingly with ACL phenotype, craniofacial dysmorphism, including macrocephaly with frontal bossing, hypertelorism, downslanting palpebral fissures, ptosis and strabismus, depressed
[bmcpediatr.biomedcentral.com]
nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Dextrocardia Heart tip and four
[rarediseases.info.nih.gov]
0000028 Delayed eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Depressed
[rarediseases.info.nih.gov]
Note the prolapsed alar cartilage on the cleft side, depressed nasal tip, wide gap between the lip segments, and deviation of the nose toward the noncleft side.
[pocketdentistry.com]
Accompanying nasal deformities are mainly characterized by a shortened columella, a depressed nasal tip, bilateral dislocation of the alar cartilage, eversion of the alar
[head-face-med.biomedcentral.com]
[…] rotation and depress the nasal tip. 23 Various different techniques, such as Lefort I osteotomy and placement of grafts, can be used to address this problem. 3,23 In our
[elsevier.es]
nasal tip - Short hand / brachydactyly Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia
[csbg.cnb.csic.es]
/ cleft nose / supernumerary nose - Blepharitis / eyelid inflammation - Chronic / relapsing otitis - Clinodactyly of fifth finger - Depressed nasal bridge - Epicanthic folds
[csbg.cnb.csic.es]
[…] learning disability - Lateral thinning of eyebrows - Long / large ear - Long / thick / curved lashes / trichomegaly / polytrichia - Prominent / bat ears - Short columella / depressed
[csbg.cnb.csic.es]
nasal tip Downslanted palpebral fissures Downturned corners of mouth Highly arched eyebrow Hypertelorism Prominence of the premaxilla ... ...
[familydiagnosis.com]
[…] features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Blepharophimosis Broad forehead Broad philtrum Cleft palate Cleft upper lip Craniosynostosis Depressed
[familydiagnosis.com]
nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000437 17 cupped ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000378 18 sparse eyebrow 59 32 frequent (33%) Frequent
[malacards.org]
nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000437 18 cupped ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000378 19 sparse eyebrow 59 32 frequent (33%) Frequent
[malacards.org]
nasal tip Rectovaginal fistula Sparse axillary hair Bilateral cleft lip Blue irides Split foot Oligodontia Ectrodactyly Blepharitis Xerostomia Hypoplastic nipples Preaxial
[mendelian.co]
nasal bridge with bulbous nasal tip, and deep-set eyes.
[mendelian.co]
nasal tip. 2e shows the facial features of the boy with a large chromosome deletion encompassing KAT6B, and who therefore has KAT6B haploinsufficiency.
[nature.com]
nasal tip Ulnar deviation of the hand Shield chest Inflammatory abnormality of the skin Ulnar deviation of the hand or of fingers of the hand Clinodactyly of the 5th finger
[mendelian.co]
nasal tip Ulnar deviation of the hand Craniosynostosis Microtia Cavum septum pellucidum Pseudoepiphysis of the thumb Broad hallux Global brain atrophy Anonychia Poor eye
[mendelian.co]
Micromelia Cleft lip Ambiguous genitalia Sandal gap Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Scrotal hypoplasia Adrenal hypoplasia Barrel-shaped chest Depressed
[mendelian.co]
Kabuki Syndrome Characteristics include facial features such as arched eyebrows with sparseness in the outer half, misshapen or prominent ears, depressed nasal tip; skeletal
[apraxia-kids.org]
Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,
[emedicine.medscape.com]
nasal tip and cleft lip and palate, were also noted (Table 2).
[bmcpediatr.biomedcentral.com]
Accordingly with ACL phenotype, craniofacial dysmorphism, including macrocephaly with frontal bossing, hypertelorism, downslanting palpebral fissures, ptosis and strabismus, depressed
[bmcpediatr.biomedcentral.com]
nasal bridge broad nasal tip Skeletal Spine: platyspondyly odontoid hypoplasia exaggerated thoracic kyphosis Chest Ribs Sternum Clavicles And Scapulae: thin ribs anterior
[malacards.org]
Visually assessable vertical indentation, cleft, or depression of the nasal tip.
[ncbi.nlm.nih.gov]
Symptoms via clinical synopsis from OMIM: 57 Head And Neck Eyes: hypertelorism pale optic discs prominent eyebrows Head And Neck Neck: short neck Head And Neck Nose: depressed
[malacards.org]
nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae,
[mendelian.co]
tip Congenital microcephaly Deep philtrum Macrotia Pointed chin Overgrowth Lymphedema Depressivity Thick hair Glaucoma Downslanted palpebral fissures Frequent falls Limb
[mendelian.co]
nasal tip Short columella Sparse lateral eyebrow Neonatal hypoglycemia Central hypotonia Lymphoma Hyperhidrosis Sparse hair Broad-based gait Deep philtrum Craniosynostosis
[mendelian.co]
nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Elbow ankylosis 0003070 High
[rarediseases.info.nih.gov]
Blepharophimosis Narrow opening between the eyelids 0000581 Cavum septum pellucidum 0002389 Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Depressed
[rarediseases.info.nih.gov]
nasal bridge, bulbous nasal tip,antevertednares, long philtrum, thin lips and downturned corners ofmouth.
[alliedacademies.org]
[…] anomalies, micrognathia, and depressed nasal bridge.
[ncbi.nlm.nih.gov]
nasal bridge Present Present Present Beaked nasal tip Yes Yes Yes Low set ears(fig 1) Present Present Normal ears Big rotated ears Yes No No Microtia No No Minimal Lips Thin
[alliedacademies.org]
nasal tip Hypoplasia of the maxilla ... ...
[familydiagnosis.com]
[…] head or neck Abnormality of the nasopharynx Absence of Stensen duct Blepharitis Blepharophimosis Carious teeth Choanal atresia Cleft palate Cleft upper lip Dacrocystitis Depressed
[familydiagnosis.com]
nasal tip and large, prominent or cupped ears.
[blueprintgenetics.com]
Craniofacial dysmorphism describes a prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate.
[orpha.net]
Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,
[thehealthscience.com]
[…] cleft - Premature greying of hair - Short columella / depressed nasal tip - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism
[csbg.cnb.csic.es]
Features of this disorder involve the head (microcephaly, small forehead, micrognathia, malar hypoplasia, broad or divided nasal tip, depressed nasal bridge, short nasal septum
[accessanesthesiology.mhmedical.com]
Fundus examination revealed no glow(OS).On examination branchial cyst excision scar of 2.5cm length below angle of mandible seen on right side,depressed nasal bridge,broad
[proceedings.aios.org]
The symptoms are Nasal hypoplasia, Depressed nasal bridge, Deep groove between nostril and nasal tip, Stippling of uncalcified epiphyses during first year, Mild hypoplasia
[definitions.net]
Symptoms - Fetal warfarin syndrome * Nasal hypoplasia * Depressed nasal bridge * Deep groove between nostril and nasal tip * Stippling of uncalcified epiphyses during first
[checkorphan.org]
The facial traits of a fetal warfarin syndrome-affected child include nasal hypoplasia, nose bridge depression, the presence of a groove between the tip of the nose and the
[symptoma.com]
