[…] skin transparent skin thin nose protruding eyes thin lips sunken cheeks small chin collapsed lung heart valve problems Doctors may use a series of tests to diagnose EDS
[healthline.com]
[…] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Varicose veins 0002619 5%-29% of people have these symptoms Abnormal intestine morphology Abnormality
[rarediseases.info.nih.gov]
Very loose small joints (fingers), but most often not the large joints (knees, elbows, hips, shoulders) Distinct facial look with a thin nose, thin lips and hollow-looking
[cincinnatichildrens.org]
Yes No No Microtia No No Minimal Lips Thin lips with long philtrum Thin lips Thin lips Tooth decay(fig 2) Dental decay Dental decay Minimal decay Palatal arch Narrow Normal
[alliedacademies.org]
The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible.
[ncbi.nlm.nih.gov]
The syndrome has a wide variety of clinical features, including deep-set eyes, micrognathia, thin lips, small maxilla, severely decayed teeth, beaked noses, depressed nasal
[alliedacademies.org]
These include small eyes, short or upturned nose, flat cheeks, and thin lips.
[americanpregnancy.org]
[…] upper lips, and smoother-than-usual skin between the nose and mouth, Dr.
[merriam-webster.com]
at 99," 13 Mar. 2018 The most severe is fetal alcohol syndrome, in which children have smaller-than-typical heads and bodies, as well as eyes unusually short in width, thin
[merriam-webster.com]
lips (3) short stature (4) variable intelletual impairment (5) ataxia (6) strabismus (7) clinodactyly (8) corneal opacities (secondary to trigeminal anesthesia and repeated
[meducator3.net]
People with Gomez-Lopez-Hernandez Syndrome often have a short skull(brachycephaly), thin lips, low-set and posterior-angled ears, and scalp alopecia above both ears.
[en.wikipedia.org]
lips high arched palate low-set, rotated ears strabismus intellectual impairment ataxia seizures short stature and/or HGH deficient Emma exhibits ALL of these except for
[planetemmaclarissa.blogspot.com]
[…] skin 0000963 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Toe clinodactyly 0001863 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Underdeveloped
[rarediseases.info.nih.gov]
Third, these patients had typical facial dysmorphisms, such as thin lips (6/6), micro/retrognathia (6/6), large ears (4/6), and long face (4/6).
[degruyter.com]
columella below alae nasi, thin lips, low set ears with large lobules ( b ), and cutis aplasia in midline of scalp ( c ).
[nature.com]
Delayed speech and language development, Infantile muscular hypotonia, Malar flattening, Mandibular prognathia, Misalignment of teeth, Obesity, Poor fine motor coordination, Thin
[genecards.org]
Additional characteristic facial abnormalities may include thin, downturned lips; low-set ears; arched, well-defined eyebrows that grow together across the base of the nose
[rarediseases.org]
lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three
[malacards.org]
lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
[orpha.net]
[…] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 30%-79% of people have these symptoms Abdominal distention Abdominal bloating Abdominal swelling Belly
[rarediseases.info.nih.gov]
Micrognathia and thin lips, large cranium with patent fontanels and frontal bossing.
[drmhijazy.com]
Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip
[ab-y-ss.com]
He had thin lips, gum hypertrophy, large and posteriorly rotated ears, hook nose, large mouth, retrognathia, short neck, and distal limb anomalies.
[findzebra.com]
[…] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Thoracolumbar kyphoscoliosis 0003423 Type II transferrin isoform profile 0012301 Unsteady gait Unsteady
[rarediseases.info.nih.gov]
Dysmorphic features included fine hair, large ears, a beaked nose with hypoplastic nasal alae, a long philtrum, thin vermilion border of the upper lip, everted lower lip,
[jmg.bmj.com]
Affected infants typically have a small head (microcephaly), a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip, and widely spaced eyes
[rareguru.com]
Individuals with Filippi syndrome have distinctive facial features including a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip and widely
[rarediseases.org]
[…] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Trigonocephaly Triangular skull shape Wedge shaped skull [ more ] 0000243 Turricephaly Tall shaped skull
[rarediseases.info.nih.gov]
[…] upper lip vermilion Constipation Behavioral abnormality High palate Gastroesophageal reflux Rare Symptoms - Less than 30% cases Cone-shaped epiphysis Aggressive behavior
[mendelian.co]
[…] upper lip Retrognathia High arched palate Thick lower lip Dental anomalies Neck Short neck Webbed neck Hands Cutaneous syndactyly Flat finger pads with fetal tubercule Thin
[ojrd.biomedcentral.com]
[…] calvarium Thin cranial bone 0010539 Thin ribs Slender ribs 0000883 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wormian bones Extra bones within
[rarediseases.info.nih.gov]
The mouth is small and the lips are thin. Typically one expects to find that the teeth are irregular, often fully erupted at birth.
[healio.com]
[…] vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Fine hair Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Generalized
[rarediseases.info.nih.gov]
thin vermillion border cardiac anomalies cardiomyopathy ventricular hypertrophy on ECG hepatic anomalies hepatomegaly hepatic fibrosis glycogen hepatocytic overload rarefied
[humpath.com]
[…] type 3 (GSD3) Synopsis short stature growth retardation carniofacial anomalies midface hypoplasia deep-set eyes depressed nasal bridge broad upturned nasal tip bow-shaped lips
[humpath.com]
lips carp-shaped mouth Skeletal Limbs: short fibula short radius short ulna joint contractures (elbows and knees) mesomelic lower limb shortening more Genitourinary External
[malacards.org]
Thin vermilion border MedGen UID: 108294 • Concept ID: C0578038 • Finding Reduced width of the skin of vermilion border region of upper lip.
[ncbi.nlm.nih.gov]
About 7 per cent have an associated cleft lip and/or palate.
[healio.com]
Abstract Scleroderma is a disorder involving oral and facial tissues, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia.
[ncbi.nlm.nih.gov]
Conversely, thin and flat lips create the illusion of emotional coldness, stress, advanced age, and are considered unattractive 5.
[prime-journal.com]
Full, well defined lips symbolize youth, beauty, attractiveness, and sensuality.
[prime-journal.com]
Thin upper lip Thin upper lip Prominent cupid bow Prominent cupid bow Mandible Pointed chin NA Prominent chin Pointed chin Pointed chin Hands/feet anomalies Short and stubby
[bmcmedgenet.biomedcentral.com]
His dysmorphic features included thin eyebrows, a bulbous nasal tip, long and smooth philtrum, malar hypoplasia, thin upper lip, micrognathia, and a short neck.
[karger.com]
[…] upper lip vermilion Pes cavus Cerebral atrophy Abnormality of the eyelashes Milia Brain atrophy Metacarpophalangeal joint hyperextensibility Progressive visual loss Prominent
[mendelian.co]
[…] upper lip vermilion Triangular face Anxiety Pain Scoliosis Wide nasal bridge Hearing impairment Polydactyly Short philtrum Postaxial polydactyly Low-set ears Pica Upslanted
[mendelian.co]
Photograph of the patient’s face showing strabismus, high forehead, hypertelorism, large ears, prominent philtrum and thin upper lip.
[nature.com]
[…] dominant inheritance Hyperactivity Strabismus Downslanted palpebral fissures Infantile onset Neonatal hypotonia Short stature Deeply set eye Rare Symptoms - Less than 30% cases Thin
[mendelian.co]
[…] upper lip and often muscular hypotonia (21).
[biochemia-medica.com]
[…] central and peripheral nervous system (19,20).Common features, although not necessarily present in neonates with PMM2-CDG, are inverted nipples, unusual subcutaneous fat, thin
[biochemia-medica.com]
Symptoms Children with CdLS are born with distinct facial features characterized by long eyelashes, thin lips, typically thick eyebrows that join at midline, low set ears
[symptoma.com]
lips with long philtrum micrognathia microbrachycephaly, microcephaly or brachycephaly upper limb malformations short 1st metacarpal oligodactyly acheiria micromelia growth
[radiopaedia.org]
External examination showed a low hairline, synophrys, low-set ear, hypertrichosis, and smooth long philtrum with thin lips (Figure 3).
[hindawi.com]
[…] upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes.
[ncbi.nlm.nih.gov]
The patient had a very short stature (147 cm, < 3rd standard deviation), a thin upper lip and a prominent lower lip, a pear-shaped nose, stubby fingers and toes with cone-shaped
[ncbi.nlm.nih.gov]
The typical craniofacial features include thin upper lip, elongated philtrum, large outstanding ears, shortened posterior facial height associated with short mandibular ramus
[ncbi.nlm.nih.gov]
The most common features include hypoplasia of the femora and a characteristic facies with a short nose, long philtrum, thin upper lip and micrognathia.
[ncbi.nlm.nih.gov]
The femoral hypoplasia-unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and micrognathia.
[ncbi.nlm.nih.gov]
This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower jaw, cleft
[ncbi.nlm.nih.gov]
Yes No No Microtia No No Minimal Lips Thin lips with long philtrum Thin lips Thin lips Tooth decay(fig 2) Dental decay Dental decay Minimal decay Palatal arch Narrow Normal
[alliedacademies.org]
lips, micrognathia, low set ears, microdontia, enamel defects and caries.
[abstracts.eurospe.org]
KCS TYPE 1 • Up-Slanting Eyes • Extremely Thin Lips • Flat Nasal Bridge • Abnormally Small Head • Under – Developed Jaw Abnormal Teeth Development – MICRODONTIA, OLIGODONTIA
[slideshare.net]
lip, low‐set ears and micrognathia.
[doi.org]
lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit.
[monarchinitiative.org]
[…] child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin
[doi.org]
The facies were strikingly similar with small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum.
[ncbi.nlm.nih.gov]
Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip
[orpha.net]
We found that tip-toeing gait, long flat philtrum and thin upper upper lip were more consistently found in GD patients with ADAMTSL2 mutations than in those with FBN1 mutations
[ncbi.nlm.nih.gov]
Femoral hypoplasia Synonyms Femoral-facial syndrome Clinical Characterisitc facies with high forehead, short nose with broad tip, long philtrum, thin upper lip, micrognathia
[mediscansystems.org]
Note also the low-set ears, long philtrum and thin upper lip. The associated cleft palate is shown in the inset.
[onlinelibrary.wiley.com]
In 46 cases (50%), a combination of all 3 following characteristics was observed: short nose, long philtrum, and thin upper lip.
[omim.org]
[…] skin transparent skin thin nose protruding eyes thin lips sunken cheeks small chin collapsed lung heart valve problems Doctors may use a series of tests to diagnose EDS
[healthline.com]
translucent skin (especially noticeable on the chest/abdomen) Easy bruising (spontaneous or with minimal trauma) Characteristic facial appearance (thin lips and philtrum
[chronicpainpartners.com]
Ehlers-Danlos syndrome, vascular type People who have Ehlers-Danlos syndrome, vascular type, often share distinctive facial features of a thin nose, thin upper lip, small
[mayoclinic.org]
[…] skin transparent skin thin nose protruding eyes thin lips sunken cheeks small chin collapsed lung heart valve problems Doctors may use a series of tests to diagnose EDS
[healthline.com]
[…] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Varicose veins 0002619 5%-29% of people have these symptoms Abnormal intestine morphology Abnormality
[rarediseases.info.nih.gov]
Very loose small joints (fingers), but most often not the large joints (knees, elbows, hips, shoulders) Distinct facial look with a thin nose, thin lips and hollow-looking
[cincinnatichildrens.org]
[…] nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin
[orpha.net]
The characteristic facies show protruding ears, beaked nose, thin lips with centrofacial cyanosis, prominent eyes, frontal and parietal bossing with pseudohydrocephaly, midface
[ncbi.nlm.nih.gov]
They develop a characteristic facial appearance including: prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears.
[rxlist.com]
[…] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]
[rarediseases.info.nih.gov]
Children may be born with almond-shaped eyes, a narrowing of the head at the temples, a turned-down mouth and a thin upper lip. Poor sucking reflex.
[mayoclinic.org]
Short philtrum 0000322 Short thorax Shorter than typical length between neck and abdomen 0010306 Spina bifida occulta 0003298 Synophrys Monobrow Unibrow [ more ] 0000664 Thin
[rarediseases.info.nih.gov]
They may have folding of the skin near the eye, a short, upturned nose or thin lips that curve inward. They may also have mild to severe intellectual disabilities.
[content.achhabachha.com]
These include: wide-set eyes with droopy eyelids small and low-set ears a broad nasal bridge downturned corners of the mouth a small lower jaw a thin upper lip skin folds
[healthline.com]
[…] upper lip, and a small lower jaw.
[ghr.nlm.nih.gov]
