Create issue ticket

47 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.[nlm.nih.gov] 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 crease, and short fifth finger with clinodactyly.[dx.doi.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] [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] murmur secondary to congenital heart defect, most commonly atrial septal defects; pulmonary stenosis, ventricular septal defects, patent ductus arteriosus, aortic insufficiency[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]

  • Gorlin-Chaudhry-Moss Syndrome

    At age 3, the patient presented with acrocephaly, small maxilla, low frontal hairline, two occipital hair whorls, epicanthal folds, hypotelorism and prominent eyes with strabismus[nature.com] 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] When an abnormal heart murmur is detected, chest X-rays may be ordered along with an electrocardiogram (ECG), a test that measures the heart muscle's electrical activity.[rarediseases.org]

  • Pentasomy X

    She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation[ncbi.nlm.nih.gov] […] left palmar crease, and overlapping of the fourth and fifth toes on both feet.[kundoc.com] However, the medical literature includes girls with an innocent heart murmur.[ncbi.nlm.nih.gov]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    Physical findings : The presence of an extra heart sound called a “click” and a heart murmur alert the doctor to the possible diagnosis.[chd-uk.co.uk] folds (vertical skin folds that cover the inner corners of the eyes Feeding difficulties in infancy, often leading to poor growth Shorter than average height Low body tone[my.clevelandclinic.org] The hands are typically short and broad and often have a single transverse palmar crease.[merckmanuals.com]

  • Trisomy 9

    murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.[ncbi.nlm.nih.gov] The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips[ncbi.nlm.nih.gov] crease across the palms (single transverse palmar crease).[rarediseases.org]

  • Ring Chromosome 22

    […] beat R00.0 Tachycardia, unspecified R00.1 Bradycardia, unspecified R00.8 Other abnormalities of heart beat R00.9 Unspecified abnormalities of heart beat R01 Cardiac murmurs[icd10data.com] folds.[ncbi.nlm.nih.gov] 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]

  • 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]

  • Deletion of the Long Arm of Chromosome 18

    Chromosome 18q- syndrome is also often characterized by additional eye (ocular) defects, such as vertical skin folds that may cover the eyes’ inner corners (epicanthal folds[rarediseases.org] A single palmar crease was noted on the right hand and an extra transverse crease was noted on the left hand. No facial dysmorphism was noted.[jmg.bmj.com] 25) Since then he's also been diagnosed with Mild Cerebral Atrophy, Slight Heart Murmur, Nystagmus, and Epilepsy.[mumsnet.com]

Similar symptoms