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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.[] heart disease and Down syndrome.[] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[]

    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[] heart disease.[] Major causes of morbidity and mortality in the first years of life include the following: Respiratory infections Complications from congenital heart disease Instability of[]

    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%.[] transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[] heart disease and transposition of the great arteries FOXH1 Congenital short-bowel syndrome CLMP Corpus callosum, agenesis of, with abnormal genitalia ARX Cortical malformations[]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    [] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[] heart disease.[] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[]

    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[] 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[] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[]

  • Miller Dieker Syndrome

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

    Missing: Overfolded Superior Helix
  • Patau Syndrome

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

    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[] Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.Visit the Orphanet disease page for more resources.[] Congenital heart disease and genitourinary anomalies were reported in some cases.[]

    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[] […] brain defects, inborn errors of metabolism, and congenital heart disease.[] heart disease.[]

    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[] Congenital heart disease 10.[] In addition to these classical features, microphthalmia, nystagmus, squint, optic atrophy, myopia, ptosis, syndactyly, oxycephaly, deaf mutism, congenital heart disease, genuvalgum[]

    Missing: Overfolded Superior Helix

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