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314 Possible Causes for Smooth Philtrum

  • Craniofacial Dysplasia-Osteopenia Syndrome

    […] some patients) Skeletal Feet: long toes (in some patients) Genitourinary External Genitalia Male: inguinal hernia cryptorchidism absent gonad activity Head And Neck Face: smooth[malacards.org] philtrum long philtrum bulging midface (in some patients) parotid gland dysfunction (in some patients) micrognathia, mild (in some patients) Endocrine Features: hypoparathyroidism[malacards.org]

  • Autosomal Recessive Mental Retardation 31

    Neurologic Central Nervous System: dysarthria hyperreflexia delayed psychomotor development seizures (rare) mental retardation, moderate to severe more Head And Neck Face: smooth[malacards.org] philtrum short philtrum narrow face long face small chin Muscle Soft Tissue: hypertonia distal myopathy (in 1 family) Growth Weight: postnatal growth retardation low birth[malacards.org]

  • Carpenter-Waziri Syndrome

    Twenty-two-year-old male with exotropia, smooth philtrum, and tented upper lip (A) ; 31-year-old male cousin with facial asymmetry, left exotropia, and ptosis (B) ; 32-year-old[oxfordmedicine.com]

  • Lateral Meningocele Syndrome

    philtrum 0000319 Umbilical hernia 0001537 5%-29% of people have these symptoms Arnold-Chiari malformation 0002308 Bicuspid aortic valve Aortic valve has two leaflets rather[rarediseases.info.nih.gov] Some believers of the myth speculate that this is the cause of the philtrum, in Philippine mythology the enchanted creature diwata has a smooth skin, with no wrinkles even[wikivisually.com] Patient 2 at 8 years; note bilateral ptosis, down-slant of the lidaxis and the long and smooth philtrum.[documents.tips]

  • 10q22.3q23.3 Microdeletion Syndrome

    philtrum Iris coloboma Ataxia Facial hypotonia Visual impairment Facial asymmetry Respiratory insufficiency Encephalopathy Myoclonus High forehead Telecanthus Anxiety Apnea[mendelian.co] […] dysplasia Stereotypy Neurodevelopmental delay Self-injurious behavior Polyphagia Macrodontia Paroxysmal bursts of laughter Brachydactyly Oxycephaly Thin upper lip vermilion Smooth[mendelian.co]

  • Ring Chromosome 4

    philtrum, full cheeks, epicanthic folds, up-slanting palpebral fissures, developmental delay, limb and digit deformities, congenital heart defects, a varying degree of psychomotor[questia.com] […] characterized by multiple abnormalities including a dysmorphic skull, facial dysmorphisms such as hypertelorism, micrognathia, cleft palate, a short nose with anteverted nares, a smooth[questia.com]

  • Epicanthal Folds

    philtrum that was the defining features.[mumsnet.com] […] mention epicanthal folds, but I can't say there's anything particularly noticable about the eyes in the example photographs - I always thought it was the thin upper lip and smooth[mumsnet.com]

  • Singleton Merten Syndrome

    Additional clinical characteristics described here include particular facial characteristics (high anterior hairline, broad forehead, smooth philtrum, thin upper vermillion[ncbi.nlm.nih.gov] philtrum ; Subvalvular aortic stenosis ; Talipes equinovarus ; Tendon rupture ; Unerupted tooth ; Waddling gait Associated Genes IFIH1 (Withdrawn symbols: Hlcd, IDDM19, MDA[mousephenotype.org] philtrum Subaortic stenosis Talipes equinovarus Tendon rupture Unerupted tooth Waddling gait (Source: Singleton-Merten Syndrome; Genetic and Rare Diseases Information Center[dovemed.com]

  • Kaufman Oculocerebrofacial Syndrome

    0000322 Smooth philtrum 0000319 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Telecanthus Corners of eye widely separated 0000506 Thin eyebrow Thin eyebrows 0045074[rarediseases.info.nih.gov] Affected individuals may also have flat cheeks ; a space between the nose and upper lip (philtrum) that is unusually long and smooth ; a narrow mouth ; and an unusually small[ghr.nlm.nih.gov] 0000275 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Preauricular skin tag 0000384 Short palpebral fissure Short opening between the eyelids 0012745 Short philtrum[rarediseases.info.nih.gov]

  • Waardenburg Syndrome, Type 1

    philtrum ; Spina bifida ; Sprengel anomaly ; Supernumerary ribs ; Supernumerary vertebrae ; Synophrys ; Telecanthus ; Thick eyebrow ; Underdeveloped nasal alae ; White eyebrow[mousephenotype.org] Hypertelorism ; Hypopigmentation of the fundus ; Hypoplastic iris stroma ; Mandibular prognathia ; Myelomeningocele ; Oral cleft ; Partial albinism ; Premature graying of hair ; Smooth[mousephenotype.org]

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