Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes.
[dnatesting.uchicago.edu]
[…] columella with a depressed nasal tip, prominent or cupped ears, and developmental delay or mental retardation.
[eyewiki.aao.org]
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]
[…] bridge Broad nasal tip Depressed nasal tip Prominent ear Auricular deformity Cupid’s bow, exaggerated High-arched palate Abnormal dentition Hypodontia Micrognathia Broad
[databases.lovd.nl]
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]
[…] bridge Broad nasal tip Depressed nasal tip Upper vermillion border, thin Abnormal dentition Tapering fingers 2-3 toe syndactyly Clinodactyly Contracture of the distal interphalangeal
[databases.lovd.nl]
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]
[from OMIM] Show allHide all Abnormality of head or neck Bifid nasal tip Depressed nasal bridge Long philtrum Abnormality of limbs Dislocated radial head Hypoplastic distal
[ncbi.nlm.nih.gov]
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 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.
[frontiersin.org]
(C) Depressed nasal tip demonstrated by Patient 5. (D) Depressed nasal tip demonstrated by Patient 8. (E) Hyperlaxity demonstrated by Patient 8.
[bmcmedgenet.biomedcentral.com]
[…] columella with a wide and depressed nasal tip, skeletal conditions, such as cleft palate, spinal column abnormalities, brachydactyly, brachymesophalangia, clinodactyly, and
[dovepress.com]
The picture shows microcephaly, frontal bossing, low-set ears, hypertelorism, epicanthus, depressed nasal bridge, bulbous nasal tip, cupid-bow upper lip combined with open
[ijponline.biomedcentral.com]
Most people with MED13L syndrome have unusual facial features that consist of a depressed nasal bridge, a bulbous nasal tip, straight eyebrows, outside corners of the eyes
[medlineplus.gov]
Abnormal facial deformity includes frontal bossing, low-set ears, hypertelorism, epicanthus, depressed nasal bridge, bulbous nasal tip, cupid-bow upper lip combined with open
[ijponline.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 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]
Short columella with depressed nasal tip. 3. Large, prominent or cupped ears. 4. Persistent fingertip pads.
[eyewiki.aao.org]
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]
[…] metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed
[orpha.net]
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]
Clinical features include euryblepharon, depressed nasal tip, prominent cupped ears and arched eyebrows. Other ocular abnormalities may also be present.
[aimu.us]
These included arched eyebrows, rounded palpebral fissures, a depressed nasal root, full nasal tip and anteverted nares.
[mdpi.com]
[from MedlinePlus Genetics] Show allHide all Abnormality of head or neck Anteverted nares Broad nasal tip Cleft palate Cleft upper lip Coarse facial features Deep philtrum
[ncbi.nlm.nih.gov]
tip and depressed nasal bridge.
[nipt-geneplanet.com]
tip Depressed nasal bridge Downslanted palpebral fissures Infra-orbital crease Midface retrusion Short nose Abnormality of the cardiovascular system Ventricular septal defect
[ncbi.nlm.nih.gov]
nasal bridge with broad tip.
[link.springer.com]
nasal bridge, and short nose with broad or bifid tip [1,8].
[cureus.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 short columella).
[findexpertmd.com]
[…] and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed
[findexpertmd.com]
A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation.
[medigraphic.com]
nasal tip Downslanted palpebral fissures Downturned corners of mouth Highly arched eyebrow Hypertelorism Prominence of the premaxilla ... ...
[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]
[…] 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]
Individuals with Schindler disease type II may also develop distinctive facial features including mildly coarse features, thick lips, a depressed nasal bridge and an enlarged
[rarediseases.org]
nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of
[ncbi.nlm.nih.gov]
nasal bridge with a broad nasal tip, a long philtrum, low-set and anomalous ears, a tented vermilion of the upper lip, wide mouth, and a small jaw Short distal phalanges
[ncbi.nlm.nih.gov]
[…] characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed
[ncbi.nlm.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]
"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]
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 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]
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]
[from OMIM] Show allHide all Abnormality of head or neck Anteverted nares Blepharophimosis Broad nasal tip Bulbous nose Depressed nasal bridge Downturned corners of mouth
[ncbi.nlm.nih.gov]
tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ] 0000455 Depressed
[rarediseases.info.nih.gov]
nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Feeding
[rarediseases.info.nih.gov]
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]
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]