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74 Possible Causes for Epicanthal Folds, Heart Murmur, Single Transverse Palmar Crease

  • Down Syndrome

    The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.[mountsinai.org] folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down , Down's , trisomy[merriam-webster.com] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com]

  • Rubinstein-Taybi Syndrome

    […] of skin on either side of the nose that may cover the eyes’ inner corners (epicanthal folds).[rarediseases.org] 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] His blood sugars dropped dangerously low and upon evaluation, the neonatologist discovered that Braxton had a severe heart murmur, his ring and pinky fingers on both hands[globalgenes.org]

  • Patau Syndrome

    These can include: ventricular septal defect - an opening between the lower chambers of the heart which prevents the heart from pumping blood correctly (a heart murmur is[babymed.com] […] over the inner corners of the eyes (epicanthal folds); and/or other ocular defects.[rarediseases.org] A single transverse palmar crease, polydactyly , and hyperconvex narrow fingernails are also common.[merckmanuals.com]

  • Mental Retardation

    ), vertical skin folds between the inner corners of the eyes and the nose (epicanthal folds), a broad nasal bridge, a long upper lip, an abnormally small lower jaw (hypoplastic[rarediseases.org] transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech Chromosome analysis in all patients; chromosome[aafp.org] It is merely a condition, like having diabetes or a heart murmur. When he was a young boy, he came in from playing with the neighbors and asked me "What's a retard?"[come-over.to]

  • Partial Trisomy 21

    The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, upward slanting palpebral fissures, epicanthic folds[ncbi.nlm.nih.gov] transverse palmar crease - in curving of little finger (clinodactyly) CHROMOSOME 21 Down Critical Region Characteristic senile plaques and neurofibrillary tangles are present[quizlet.com] murmur.[ncbi.nlm.nih.gov]

  • Ring Chromosome 7

    folds, hyper/hypotelorism).[rarediseases.info.nih.gov] folds, dysplasia of the external ears, higharched palate, syndactylism between 2nd and 3rd toes on both sides, small narrow hands is suggested of a chromosomal disorder.[thieme-connect.com] transverse palmar crease Shares features of another case with duplication of 22q11.1 to q13 [ edit ] Absence of speech Persistent self-injury Lack of daily living skills[en.wikibooks.org]

  • Wolf Hirschhorn Syndrome

    The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip[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] murmur secondary to congenital heart defect, most commonly atrial septal defects; pulmonary stenosis, ventricular septal defects, patent ductus arteriosus, aortic insufficiency[emedicine.medscape.com]

  • Chromosome 6q11-q14 Deletion Syndrome

    murmur Pulmonary artery stenosis Uterine prolapse Skin rash Scarring Frontal bossing Hip dysplasia Thin skin Coxa valga Joint dislocation Coxa vara Rickets Dysphasia Prolonged[mendelian.co] Folds Mouth And Oral Structures Macrostomia With Carp Mouth Thin Upper Lip Highly Arched Narrow Palate Cleft Lip/Palate Abdomen Umbilical And Inguinal Hernia And Single Umbilical[neo-genetics.com] Distinctive facies: hypertelorism, rounded face, epicanthic folds, low set ears. 5q35 deletion. Loss of NSD1 gene. Not cytogenetically detectable 95% de novo.[brainscape.com]

  • Crossed Polysyndactyly

    Infants with RSTS may also have extra heart sounds (heart murmurs), abnormal narrowing of the opening between the pulmonary artery and the right ventricle of the heart (pulmonary[rarediseases.org] transverse palmar crease Convex nasal ridge Abnormal electroretinogram Severe combined immunodeficiency CNS hypomyelination Severe visual impairment Thin upper lip vermilion[mendelian.co] […] of skin on either side of the nose that may cover the eyes’ inner corners (epicanthal folds).[rarediseases.org]

  • Ring Chromosome 1

    PATIENT D The chromosomes of this girl were studied soon after birth because of the presence of a large, protruding tongue and a heart murmur, which was subsequently shown[jmg.bmj.com] folds and broad nasal bridge, cardiovascular and respiratory systems were normal and no abnormalities in the limbs.[sciencedomain.org] transverse palmar crease Shares features of another case with duplication of 22q11.1 to q13 [ edit ] Absence of speech Persistent self-injury Lack of daily living skills[en.wikibooks.org]

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