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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.[ncbi.nlm.nih.gov] The facial appearance showed triangular shape with frontal bossing, down-slanting palpebral fissures, small mouth, prominent, thin mandible, and everted lower lips.[nature.com]

  • Gaucher Disease, Collodion Type

    […] lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set[mousephenotype.org] […] 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[rarediseases.info.nih.gov] […] erythroderma ; Decreased beta-glucocerebrosidase protein and activity ; Decreased fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted[mousephenotype.org]

  • Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome

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

  • 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[rarediseases.info.nih.gov] […] lower lip Medially sparse broad eyebrows Uplifted ear lobes with a central depression Moderate to severe intellectual disability is usual.[mowatwilsonsyndrome.org.uk] […] lower lip, posteriorly rotated ears, and large uplifted ear lobes with a central depression.[jmg.bmj.com]

  • Early Infantile Epileptic Encephalopathy

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

  • Diffuse Palmoplantar Keratoderma

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

  • 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[…][orpha.net]

  • Coffin-Lowry Syndrome

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

  • Euhidrotic Ectodermal Dysplasia

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

  • 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[…][ncbi.nlm.nih.gov]

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