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1,410 Possible Causes for Narrow Face, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Kaufman Oculocerebrofacial Syndrome

    Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies[ncbi.nlm.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] 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]

  • Seckel Syndrome

    Small head, large eyes, beak-like nose, narrow face, and receding mandible. Laryngeal stenosis.[accessanesthesiology.mhmedical.com] 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] Other features of SCKL include microcephaly (small head) with intellectual disability, unique facial features such as large eyes, narrow face, “beak-like” protrusion of the[secure.ssa.gov]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    The face is characterized by a prominent forehead and eyebrows, narrowing of both temples, scarce hair on the scalp, thickened eyebrow ridges, downslanting eyelid slits, wide-set[rarediseases.org] 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]

  • Postaxial Oligodactyly, Tetramelic

    […] palate Dilatation Abnormality of the face Thin vermilion border Downturned corners of mouth Protruding ear Broad forehead Heterotopia Partial agenesis of the corpus callosum[mendelian.co] transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[malacards.org] […] palm Disproportionate tall stature Depressivity Long face Broad forehead Anxiety Hypertrophic cardiomyopathy Macrotia Coarse facial features Diabetes mellitus Abnormality[mendelian.co]

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

    […] palate, malocclusion, abnormally shaped teeth, oligodontia, microdontia, low scalp hairline, hypertrichosis of scalp, face, trunk and limbs and genital hypoplasia.[ncbi.nlm.nih.gov] 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] Facial abnormalities : Long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate.[vivavoceoralmedicineradiology.com]

    Missing: Overfolded Superior Helix
  • Micrognathism

    transverse palmar crease, telecanthus, micrognathism , macrocephaly, hypotonia and furrowed tongue.[eng.ichacha.net] Other facial features may include abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw ( micrognathia ).[diki.pl] In addition to a small jaw, your child may also have a slow growth rate, hair loss, and a very narrow face.[healthline.com]

    Missing: Overfolded Superior Helix
  • Pitt-Hopkins Syndrome

    The patients also show bitemporal narrowing, deep-set eyes, thin midline eyebrows, and full cheeks.[ncbi.nlm.nih.gov] ., 2008 ] and protruding lower face or prognathism [ Amiel et al., 2007 ; Giurgea et al., 2008 ; Zweier et al., 2008 ; Taddeucci et al., 2010 ].[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    Note the hypertonicity, small and narrow face, dropped jaw, and open-mouth expression secondary to facial laxity.[emedicine.medscape.com] [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[pathophys.org]

    Missing: Overfolded Superior Helix
  • Miller Dieker Syndrome

    Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org]

    Missing: Overfolded Superior Helix
  • Distal Symphalangism

    transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co] Metaphyseal irregularity Tibial bowing Thin vermilion border Long philtrum Nuclear cataract Thoracolumbar scoliosis Craniosynostosis Hypophosphatemia Widely spaced teeth Narrow[mendelian.co] (29-5%) 20 tall stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954 24 camptodactyly[malacards.org]

    Missing: Overfolded Superior Helix

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