cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded
[onlinelibrary.wiley.com]
cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism.
[epilepsydiagnosis.org]
[…] eye folds [ more ] 0000286 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Flat face Flat facial shape 0012368 Full cheeks Apple
[rarediseases.info.nih.gov]
Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism.
[ncbi.nlm.nih.gov]
[…] forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production
[ncbi.nlm.nih.gov]
[…] intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent
[ncbi.nlm.nih.gov]
Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye
[familydiagnosis.com]
SBBYS causes specific facial features, including prominent cheeks, a wide nasal bridge, and a nose with a rounded tip. SBBYS occurs in less than 1 in a million children.
[diseaseinfosearch.org]
Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.
[malacards.org]
Additional findings may include prominent cheeks, microstomia, and glossoptosis. read more
[ctgt.net]
cheeks, and question mark ears (QMEs).
[malacards.org]
cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac
[orpha.net]
Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.
[ncbi.nlm.nih.gov]
[…] microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent
[orpha.net]
cheeks, a broad nasal root and hypertelorism (Fig. 1).
[spandidos-publications.com]
[…] demonstrated the following: Body weight, 6,500 g (<3rd centile); height, 71 cm (<3rd centile); poorly pigmented wooly hair; facial dysmorphism, including squared forehead, prominent
[spandidos-publications.com]
Symptoms - Ichthyosis cheek eyebrow syndrome Ichthyosis vulgaris Prominent cheeks Full cheeks Sparse lateral eyebrow High arched roof of mouth Causes - Ichthyosis cheek eyebrow
[checkorphan.org]
Type your tag names separated by a space and hit enter Abstract A family presenting with ichthyosis vulgaris, prominent full cheeks, sparse lateral eyebrows and other craniofacial
[unboundmedicine.com]
[…] syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows.
[malacards.org]
In addition to malformed ears, the major features of these patients were prominent cheeks, round facial appearance, micrognathia, microstomia, malocclusion, and hearing loss
[nature.com]
cheeks, anomalies of the temporomandibular joint and condyle Cerebrocostomandibular syndrome 117650 Unknown Autosomal dominant and recessive reported Narrow thorax, rib anomalies
[radiologykey.com]
Prominent cheeks, microstomia, hearing loss and feeding difficulties seem to be more represented in F1, but abnormal palate, macrocephaly, ptosis, mild developmental delay
[nature.com]
Features: Head And Neck Turricephaly Micrognathia Prominent Cheeks High Forehead A Round Face Ears Dysmorphic Ears With Backward Slanting Eyes Broad Eyebrows Epicanthus Atrophy
[neo-genetics.com]
cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of
[link.springer.com]
cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism.
[epilepsydiagnosis.org]
cheeks Small nares Flat philtrum Relatively large mouth Bilateral epicanthal folds High arched palate Microretrognathism Coloboma of the optic disc Strabismus Cup-shaped
[en.wikipedia.org]
[…] stature and small head size, as well as distinct facial features that include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth, and prominent
[diseaseinfosearch.org]
[…] epicanthal folds 1 1 Square-shaped face + - + Frontal bossing + - + Temporal indentation - + Prominent cheeks - + Hypertelorism + + + + Downslanting
[hindawi.com]
cheeks, temporal indentation, large mouth with micrognathia/retrognathia, penile hypoplasia, congenital heart defects, and mental delay [1].
[hindawi.com]
[…] palpebral fissures + - Abnormal nose + + Abnormal philtrum + + Down-turned corners of the mouth + - + Prominent middle upper lip + - Eversion of
[hindawi.com]
[…] facies with full cheeks, and prominent or proptotic eyes.
[ncbi.nlm.nih.gov]
The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid
[ncbi.nlm.nih.gov]
The most striking and consistent features are a prominent glabellar nevus flammeus (simplex) that fades with age, synophrys that becomes more prominent with age, hypotonic
[ncbi.nlm.nih.gov]
Abundant evidence of sun damage — including weathering, telangiectasias, solar lentiginosis, and numerous actinic keratoses on prominent areas of his cheeks and ears — was
[clinicaladvisor.com]
Males with Barth syndrome often have distinctive facial features including prominent cheeks.
[malacards.org]
broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?
[childrenshospital.org]
[…] to thrive in infants and other abnormalities in growth exercise intolerance or lack of stamina distinctive facial features in childhood, including a round face with full cheeks
[childrenshospital.org]
[…] nose, full cheeks, long mid-face and small jaw Small teeth Pigmentation of the skin *Please be aware, not all of the characteristics may be present* Other information about
[littlepeopleuk.org]
[…] nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities.
[resourcerepository.org]
Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features e.g. prominent
[littlepeopleuk.org]
Presentation Jansen's metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent cheeks, and small mandible.
[wikidoc.org]
cheeks, wide cranial sutures, and a high-arched palate.
[ordindia.org]
In fact by three, I’d started developing unusual facial features as well, such as prominent eyes and cheeks and abnormal skull shape – suggestive of a congenital disorder
[fridaymagazine.ae]
Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with
[orpha.net]
The excessive lax skin is particularly prominent around the axillae, groins and neck and on the face (giving patients an aged appearance with eyelid ptosis and drooping cheeks
[rarediseases.info.nih.gov]
These features include an extremely small puckered mouth (microstomia); a “full” forehead appearance, unusually prominent cheeks; and thin, pursed lips.
[courageousfacesfoundation.org]
He had abnormal whistling facies including an extremely small puckered mouth; thin, pursed lips with long and well developed philtrum of upper lip, unusually prominent cheeks
[apspjcaserep.com]
These features include an extremely small puckered mouth (microstomia); a "full" forehead appearance, unusually prominent cheeks; and thin, pursed lips.
[rarediseases.org]
A, Microcephaly, low set ears, micrognathia, triangular facial structure, bilateral ptosis, prominent nasal structure, full cheeks; B, elongated foot structure; and C, hypertonicity
[ijp.tums.pub]
Long face, puffy cheeks, long philtrum, pointed chin and prominent occiput have also been reported (1, 3, 35, 40, 43, 49, 52, 59).
[ec.bioscientifica.com]
[…] nasal structure, full cheeks, widely spaced nipples, pectus excavatum, arachnodactyly and elongated foot structure (Figure 1).
[ijp.tums.pub]
These features include an extremely small puckered mouth (microstomia); a "full" forehead appearance, unusually prominent cheeks; and thin, pursed lips.
[rarediseases.org]
His forehead was high with retraction of the temporal regions, which contrasted with his round face and prominent cheeks. The occipital bone was protuberant.
[publications.fondationlejeune.org]
There may be flattening of the cheek area (midface hyperplasia). Individuals are noted to have a short neck.
[rarediseases.org]
The chin is set back (retrognathia) but in a few cases, in older individuals, the chin is prominent. There may be a large tongue (macroglossia).
[rarediseases.org]
Known as Tessier clefts 6, 7 and 8, these result in a flattened cheek prominence and downward slanting deficient lower eyelids.
[rchsd.org]
Known as Tessier clefts 6, 7 and 8, these result in a flattened cheek prominence, and downward slanting deficient lower eyelids.
[craniofacialmd.com]
cheeks and pointy chin.
[ivami.com]
Photograph of face showing hypertelorism, ptosis, short noseh a broad bridge and a splayed upturned tip, prominent cheeks,g hypoplastic philtrum with a thin vermillion border
[documents.tips]
[…] syndrome is unusual facial appearance, which may include hypertelorism, droopy eyelids with large openings, very arched eyebrows, a nose bridge and tip wide nose, philtrum, prominent
[ivami.com]
[…] epicanthal folds 1 1 Square-shaped face + - + Frontal bossing + - + Temporal indentation - + Prominent cheeks - + Hypertelorism + + + + Downslanting
[hindawi.com]
cheeks, temporal indentation, large mouth with micrognathia/retrognathia, penile hypoplasia, congenital heart defects, and mental delay [1].
[hindawi.com]
[…] palpebral fissures + - Abnormal nose + + Abnormal philtrum + + Down-turned corners of the mouth + - + Prominent middle upper lip + - Eversion of
[hindawi.com]
The moderate to mild mental retardation and somewhate unusual features (round face, prominent cheeks and nose, short mandible) in the three siblings and two other affected
[ncbi.nlm.nih.gov]
These include: facial asymmetry, down-slanting palpebral fissures, ptosis, prominent nose, long philtrum, down-turned mouth, midline crease in the lower lip, puffy cheeks,
[ncbi.nlm.nih.gov]
Characteristics of Saul Wilson Syndrome include: Small head Prominent forehead Prominent eyes Flat cheek bones Narrow nose root Beaked nose Cataract Cone-shaped epiphyses
[littlepersonuniquelife.com]
In reference to the distinctive facial features include: prominent forehead, hypertelorism, midface hypoplasia, a small nose pointing upwards and prominent cheeks.
[ivami.com]
[…] face, small nose with upturned nostrils, and full cheeks); • Shortening of bones in upper extremities and femurs; and • Joint contractures.
[secure.ssa.gov]
and full cheeks.
[ghr.nlm.nih.gov]
In reference to the distinctive facial features include: prominent forehead, hypertelorism, midface hypoplasia, a small nose pointing upwards and prominent cheeks.
[ivami.com]
[…] face, small nose with upturned nostrils, and full cheeks); • Shortening of bones in upper extremities and femurs; and • Joint contractures.
[secure.ssa.gov]
and full cheeks.
[ghr.nlm.nih.gov]
