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470 Possible Causes for Mongoloid Slant, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] 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] Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[ncbi.nlm.nih.gov]

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] In addition to ocular features related to DS such as epicanthal folds, narrowed or slanted palpebral fissures (the mongoloid slant) and Brushfield spots (38–85%)(Fig. 4 ),[ncbi.nlm.nih.gov] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com]

    Missing: Overfolded Superior Helix
  • 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] […] 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
  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the[…][ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Miller Dieker Syndrome

    The full text of this article hosted at iucr.org is unavailable due to technical difficulties. Corresponding Author E-mail address: tpollin@umppa1.ab.umd.edu Division of Diabetes, Obesity and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland Division of Diabetes, Obesity, and Nutrition, University of[…][doi.org]

    Missing: Overfolded Superior Helix
  • Pallister-Killian Syndrome

    We report on two patients with Pallister-Killian syndrome: an 18 month old male infant followed since the neonatal period and a 4 year old boy. Prenatal diagnosis by chorionic villi sampling (CVS) in the first case showed a normal karyotype without mosaicism. Chromosome analysis on peripheral lymphocytes of the[…][ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[rarediseases.info.nih.gov] slant of the palpebral fissures, ptosis of the lateral upper lids and high-arched narrow palate.[read.qxmd.com] Genetics. 47(5): 267-269 1995 We report a 2-year-old girl with craniosynostosis, an ossification defect of the cranial vault, midface hypoplasia, low frontal hairline, anti-mongoloid[eurekamag.com]

    Missing: Overfolded Superior Helix
  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] These include anti-mongoloid slant of eyes, heavy eye brows, low set ears and beaked nose.[faoj.org] Typical facial characteristics include a beaked nose, broad nasal bridge, cleft palate anomaly, grimacing smile, palpebral fissures, anti-mongoloid slant, apparent hypertelorism[jmedicalcasereports.com]

    Missing: Overfolded Superior Helix
  • Seckel Syndrome

    transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[rarediseases.info.nih.gov] slant of palpebral fissures, premature balding, short trunk, variable musculoskeletal changes (e.g., kyphoscoliosis, joint dislocations, clubbing of fingers) and genitourinary[medical-dictionary.thefreedictionary.com] […] nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Proportionate short stature 0003508 Seizures Seizure 0001250 Selective tooth agenesis 0001592 Single[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] 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] […] macrocephaly; constipation that may be associated with anal anomalies; broad thumbs and halluces; prominent fingertip pads; and small, rounded, cupped ears that often have an overfolded[ncbi.nlm.nih.gov]

    Missing: Mongoloid Slant