Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes.
[…] columella with a depressed nasal tip, prominent or cupped ears, and developmental delay or mental retardation.
Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
[…] bridge Broad nasal tip Depressed nasal tip Prominent ear Auricular deformity Cupid’s bow, exaggerated High-arched palate Abnormal dentition Hypodontia Micrognathia Broad
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
[…] 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
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
Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed
[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
There is also a characteristic facies with a small nose with a rounded tip, a depressed nasal bridge and a long philtrum.
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
Those features include prominent forehead, downslanting long palpebral fissures, depressed nasal bridge, broad nasal tip, long philtrum, heavy and broad eyebrows, anterior
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
A New Malformation Syndrome of Long Palpebral Fissures, Large Ears, Depressed Nasal tip, and Skeletal Anomalies Associated With Postnatal Dwarfism and Mental Retardation.
(C) Depressed nasal tip demonstrated by Patient 5. (D) Depressed nasal tip demonstrated by Patient 8. (E) Hyperlaxity demonstrated by Patient 8.
[…] columella with a wide and depressed nasal tip, skeletal conditions, such as cleft palate, spinal column abnormalities, brachydactyly, brachymesophalangia, clinodactyly, and
The picture shows microcephaly, frontal bossing, low-set ears, hypertelorism, epicanthus, depressed nasal bridge, bulbous nasal tip, cupid-bow upper lip combined with open
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
Abnormal facial deformity includes frontal bossing, low-set ears, hypertelorism, epicanthus, depressed nasal bridge, bulbous nasal tip, cupid-bow upper lip combined with open
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
[…] columella with a depressed nasal tip, prominent or cupped ears, and developmental delay or mental retardation.
Short columella with depressed nasal tip. 3. Large, prominent or cupped ears. 4. Persistent fingertip pads.
nasal bridge, prominent bulbous nasal tip and full lips.
nasal bridge, prominent bulbous nasal tip and full lips.Visit the Orphanet disease page for more resources.
[…] metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed
nasal tip with short columella, and prominent or cupped ears); congenital anomalies (congenital heart defects, renal anomalies); skeletal anomalies (persistent fetal fingertip
nasal ridge Alopecia totalis Bifid nasal tip Calvarial skull defect Coronal craniosynostosis Scrotal hypoplasia Hypohidrosis Fine hair Encephalocele Abnormal form of the
[…] 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
Clinical features include euryblepharon, depressed nasal tip, prominent cupped ears and arched eyebrows. Other ocular abnormalities may also be present.
These included arched eyebrows, rounded palpebral fissures, a depressed nasal root, full nasal tip and anteverted nares.
[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
tip and depressed nasal bridge.
tip Depressed nasal bridge Downslanted palpebral fissures Infra-orbital crease Midface retrusion Short nose Abnormality of the cardiovascular system Ventricular septal defect
nasal bridge with broad tip.
nasal bridge, and short nose with broad or bifid tip [1,8].
/apertura pyriformis hypoplasia/stenosis Short columella/depressed nasal tip Short/small nose Single nare/abouphalia Small/triangular nares/nostrils Thick columella Thin/hypoplastic
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
/hypoplasia/arhinia/rudimentary nose Nasal chondritis/nose chondritis Nasal congestion/sinusitis/rhinitis/rhinorrhea Nasal polyposis Nasal septum deviation Nasal/sinus obstruction
nasal tip and short columella).
[…] 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
A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation.
nasal tip Downslanted palpebral fissures Downturned corners of mouth Highly arched eyebrow Hypertelorism Prominence of the premaxilla ... ...
[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
[…] features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Blepharophimosis Broad forehead Broad philtrum Cleft palate Cleft upper lip Craniosynostosis Depressed
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
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
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
[…] characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed
[from OMIM] Show allHide all Abnormality of head or neck Blepharophimosis Broad forehead Broad philtrum Cleft upper lip Craniosynostosis syndrome Depressed nasal tip Downslanted
"A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation"
nasal tip; (3) large, prominent or cupped ears; and (4) persistent fingertip pads.
nasal tip, atypical fingerprints, ear deformity (macrotia or microtia), hypotonia, joint hyperflexibility, ptosis, blue sclera, cafe au lait spot, GU anomalies (e.g. hypospadias
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.
Accompanying nasal deformities are mainly characterized by a shortened columella, a depressed nasal tip, bilateral dislocation of the alar cartilage, eversion of the alar
[…] 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
nasal tip - Short hand / brachydactyly Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia
/ cleft nose / supernumerary nose - Blepharitis / eyelid inflammation - Chronic / relapsing otitis - Clinodactyly of fifth finger - Depressed nasal bridge - Epicanthic folds
[…] learning disability - Lateral thinning of eyebrows - Long / large ear - Long / thick / curved lashes / trichomegaly / polytrichia - Prominent / bat ears - Short columella / depressed
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
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
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
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
nasal tip Rectovaginal fistula Sparse axillary hair Bilateral cleft lip Blue irides Split foot Oligodontia Ectrodactyly Blepharitis Xerostomia Hypoplastic nipples Preaxial
[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
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
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
nasal bridge with bulbous nasal tip, and deep-set eyes.
nasal tip. 2e shows the facial features of the boy with a large chromosome deletion encompassing KAT6B, and who therefore has KAT6B haploinsufficiency.
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
nasal tip Ulnar deviation of the hand Craniosynostosis Microtia Cavum septum pellucidum Pseudoepiphysis of the thumb Broad hallux Global brain atrophy Anonychia Poor eye
Micromelia Cleft lip Ambiguous genitalia Sandal gap Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Scrotal hypoplasia Adrenal hypoplasia Barrel-shaped chest Depressed
nasal bridge broad nasal tip Skeletal Spine: platyspondyly odontoid hypoplasia exaggerated thoracic kyphosis Chest Ribs Sternum Clavicles And Scapulae: thin ribs anterior
Visually assessable vertical indentation, cleft, or depression of the nasal tip.
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
nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae,
tip Congenital microcephaly Deep philtrum Macrotia Pointed chin Overgrowth Lymphedema Depressivity Thick hair Glaucoma Downslanted palpebral fissures Frequent falls Limb
nasal tip Short columella Sparse lateral eyebrow Neonatal hypoglycemia Central hypotonia Lymphoma Hyperhidrosis Sparse hair Broad-based gait Deep philtrum Craniosynostosis