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715 Possible Causes for Anteverted Nostril, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide[rarediseases.info.nih.gov]

  • Aarskog-Scott Syndrome

    transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov] Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and[medicinenet.com]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] The recognisable facial appearance is characterised by sparse and laterally broad eyebrows, upslanting and narrow palpebral fissures, telecanthus, anteverted nostrils with[jmg.bmj.com]

  • Zellweger Syndrome

    transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] ) nostrils vertical fold of skin over the inner corner of the eye (epicanthal fold) upslanting eyes shallow orbital ridges minor ear abnormalities Other characteristics include[encyclopedia.com] […] bottom foot Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ] 0001838 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Pallister-Killian Syndrome

    Table 2 Clinical features 1 Female 18y/22y Flat, broad nasal root, upslanting palpebral fissures, hypertelorism, coarse face, anteverted nostrils, retrognathia, small ears[molecularcytogenetics.biomedcentral.com] nostrils small and apparently low-set ears simian crease clinodactyly congenital heart disease : may be seen in up to 25% of cases 4 congenital diaphragmatic hernia : may[radiopaedia.org] The dysmorphic pattern is age-dependent and includes brachycephaly, temporal balding during the first years of life, a short nose with flat bridge and anteverted nostrils[molecularcytogenetics.biomedcentral.com]

    Missing: Overfolded Superior Helix
  • Smith Lemli Opitz Syndrome

    On fetal post-mortem examination, a midline U-shaped soft palate cleft, micrognathia, postaxial polydactyly of the fingers with single transverse palmar creases bilaterally[ncbi.nlm.nih.gov] Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com] nostrils, microg-nathia, cleft palate, thickened dental ridge, simian crease, polydactyly, metatarsus abductus, syndactyly of second and third toes, and ambiguous genitalia[indianpediatrics.net]

    Missing: Overfolded Superior Helix
  • Lichtenstein Syndrome

    : osteoporosis, severe repeated fractures Skeletal Limbs: limited extension at the elbows Head And Neck Eyes: synophrys epicanthal folds white sclera Head And Neck Nose: anteverted[malacards.org] nostrils Head And Neck Teeth: enamel hypoplasia caries discolored teeth, brown Skeletal Spine: c1-c2 subluxation posterior spinal arch fusion defect Chest Ribs Sternum Clavicles[malacards.org]

    Missing: Overfolded Superior Helix
  • Camptodactyly Syndrome Guadalajara Type 1

    […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachycephaly Short and broad skull 0000248 Brachydactyly Short fingers or toes[rarediseases.info.nih.gov] 0010807 Pectus carinatum Pigeon chest 0000768 Pectus excavatum Funnel chest 0000767 Telecanthus Corners of eye widely separated 0000506 30%-79% of people have these symptoms Anteverted[rarediseases.info.nih.gov]

    Missing: Single Transverse Palmar Crease
  • Cranioectodermal Dysplasia

    The full text of this article hosted at iucr.org is unavailable due to technical difficulties. Clinical Report Cranioectodermal dysplasia: A probable ciliopathy † First published: 24 September 2009 Cited by: 13 † How to cite this article: Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G,[…][doi.org]

    Missing: Overfolded Superior Helix
  • Kleefstra Syndrome
    Missing: Overfolded Superior Helix

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