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4,005 Possible Causes for Congenital Heart Disease, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] heart disease and Down syndrome.[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
  • 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] heart disease.[symptoma.com] Major causes of morbidity and mortality in the first years of life include the following: Respiratory infections Complications from congenital heart disease Instability of[emedicine.com]

    Missing: Overfolded Superior Helix
  • Seckel Syndrome

    Tricuspid atresia is a rare and life threatening cyanotic congenital heart diseases, with an incidence of 1% to 3%.[ncbi.nlm.nih.gov] 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] heart disease and transposition of the great arteries FOXH1 Congenital short-bowel syndrome CLMP Corpus callosum, agenesis of, with abnormal genitalia ARX Cortical malformations[centogene.com]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    [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] heart disease.[ncbi.nlm.nih.gov] 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
  • Kaufman Oculocerebrofacial Syndrome

    Congenital Rubella Syndrome: Microcephaly, cataracts/congenital glaucoma, congenital heart disease, deafness, purpura, splenomegaly, jaundice, and mental retardation; a result[accessanesthesiology.mhmedical.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] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com]

  • Miller Dieker Syndrome

    Congenital heart diseases are also frequently associated with MDS [ 1 ].[jaclinicalreports.springeropen.com] Prenatal ultrasonography findings in MDS are smooth gyral pattern, ventriculomegaly, large subarachnoid space, congenital heart disease and omphalocele [6] [7].[ijcasereportsandimages.com] Additionally, congenital anomalies such as omphalocele and heart defects are also identified prenatally.[symptoma.com]

    Missing: Overfolded Superior Helix
  • Patau Syndrome

    Most infants with trisomy 13 have congenital heart disease.[nlm.nih.gov] A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.[merckmanuals.com] heart disease, blindness, severe mental retardation may complicate survival Please rate topic.[medbullets.com]

    Missing: Overfolded Superior Helix
  • Ring Chromosome 10

    Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar[ncbi.nlm.nih.gov] Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.Visit the Orphanet disease page for more resources.[malacards.org] Congenital heart disease and genitourinary anomalies were reported in some cases.[orpha.net]

    Missing: Overfolded Superior Helix
  • Postaxial Oligodactyly, Tetramelic

    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] […] brain defects, inborn errors of metabolism, and congenital heart disease.[books.google.es] heart disease.[docksci.com]

    Missing: Overfolded Superior Helix
  • Laurence Moon Syndrome

    transverse palmar creases 0007598 Brachycephaly Short and broad skull 0000248 Brachydactyly Short fingers or toes 0001156 Cataract Clouding of the lens of the eye Cloudy[rarediseases.info.nih.gov] Congenital heart disease 10.[en.wikipedia.org] In addition to these classical features, microphthalmia, nystagmus, squint, optic atrophy, myopia, ptosis, syndactyly, oxycephaly, deaf mutism, congenital heart disease, genuvalgum[ijo.in]

    Missing: Overfolded Superior Helix

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