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453 Possible Causes for Everted Lips

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  • Marshall-Smith Syndrome

    Facial features are characteristic with high forehead, underdeveloped midface, proptosis, anteverted nares, and everted lips.[] The facial appearance showed triangular shape with frontal bossing, down-slanting palpebral fissures, small mouth, prominent, thin mandible, and everted lower lips.[]

  • Gaucher Disease, Collodion Type

    […] lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set[] […] lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Everted upper lip vermilion Outward turned upper lip 0010803 Hepatic failure Liver failure[] […] erythroderma ; Decreased beta-glucocerebrosidase protein and activity ; Decreased fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted[]

  • Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome

    Frontal bossing, sunken cheeks, and thick and everted lips may be part of the facial phenotype.[] […] lower lip vermilion Microtia Joint laxity Triangular face Thin upper lip vermilion Autism Pain Intellectual disability, moderate Leukemia Short palpebral fissure Brachydactyly[] Cryptorchidism Pes planus Neurological speech impairment Impaired pain sensation Hydronephrosis Broad nasal tip Narrow palate Low-set ears Feeding difficulties Gait ataxia Everted[]

  • Goldberg-Shprintzen Syndrome

    Wearing away or breakdown of cornea of eye 0200020 Corneal ulceration 0012804 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Everted[] […] lower lip Medially sparse broad eyebrows Uplifted ear lobes with a central depression Moderate to severe intellectual disability is usual.[] […] lower lip, posteriorly rotated ears, and large uplifted ear lobes with a central depression.[]

  • Early Infantile Epileptic Encephalopathy

    Infantile encephalopathy Short attention span Hemifacial hypoplasia Language impairment Lumbar kyphoscoliosis Thoracolumbar kyphoscoliosis Multifocal seizures Cupped ear Everted[] […] lower lip vermilion Frontal bossing Aggressive behavior Hypermetropia Downturned corners of mouth Highly arched eyebrow Facial asymmetry Protruding ear Esotropia Febrile[] […] generalized slow activity Infantile muscular hypotonia Visual impairment Self-injurious behavior Ptosis Brachydactyly Failure to thrive Mood swings Abnormality of lower lip[]

  • Diffuse Palmoplantar Keratoderma

    Craniofacial features are square forehead with frontal bossing, prominent supraorbital ridge, concave midface, saddle nose, everted lips, and periorbital hyperpigmentation[] lips, malar hypoplasia, a bulging forehead, and pointed ears [Figure 2] .[] […] a characteristic facial appearance—depressed nasal bridge, increased intercanthal distance, periorificial hyperpigmentation and wrinkled skin, flat and wide nose, thick everted[]

  • Mucopolysaccharidosis 2

    Summary Epidemiology Prevalence at birth in Europe is 1/166,000. It is an X-linked recessive disorder; very rare cases of female presentation have been reported. Clinical description MPS2 patients appear healthy at birth, with initial symptoms appearing between 18 months and 4 years of age. Macrocephaly develops[…][]

  • Coffin-Lowry Syndrome

    lips with wide mouth and progressive skeletal changes: scoliosis, spondylolisthesis and pectus excavatum.[] BACKGROUND: Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental[] lips, and a thick nasal septum with anteverted nares.[]

  • Euhidrotic Ectodermal Dysplasia

    lips.[] On examination, facial dysmorphism (sunken cheeks; saddle nose; thick, everted lips; wrinkled, hyperpigmented periorbital skin; and large, low-set ears) may be seen.[] The classical facial features described include prominent forehead and chin, sunken cheeks with saddle nose, thick everted lips and large ears.[]

  • Ear - Patella - Short Stature Syndrome

    The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomalies, microtia, delayed skeletal development, hypogonadism, and[…][]

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