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30 Possible Causes for Ear Deformity, Folded Helix, Heart Murmur

  • Down Syndrome

    The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.[nlm.nih.gov]

  • Marfan Syndrome

    Most affected individuals have "crumpled" ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth[ncbi.nlm.nih.gov] If you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope.[web.archive.org] Most affected individuals have "crumpled" ears, with a folded upper helix, and most have contractures of knees and ankles at birth that usually improve with time.[ncbi.nlm.nih.gov]

  • Ear Deformity

    In the mild form, the helix alone is involved. It can be only a slightly broad rim, but more commonly the helix is flattened or folded along the upper edge.[plasticsurgery4u.com] Abstract The common characteristics of the crumpled-ear deformity, the steps for surgical correction, and the authors' experience are described in this article.[ncbi.nlm.nih.gov] He had a minor delay in his motor development and a heart murmur dysfunction that was monitored by a cardiologist.[arquivosdeorl.org.br]

  • Mucopolysaccharidosis 2

    […] alpha helixes around them.[journals.plos.org] […] infection, hearing difficulties Frequent upper respiratory infections Stunted growth Multiple skeletal deformities; degenerative joints causing joint stiffness Spinal cord[dovemed.com] Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly[secure.ssa.gov]

  • Central Sleep Apnea

    […] and antimongoloid slant of eyes, ears deformed with broad slightly irregular flattened helix and fixed lobes, prominent glabella, broad root of nose, asymmetry of shape of[doi.org] CASE REPORT A 64 year old man in whom a heart murmur had been noted since the age of 19 remained well until the age of 63 when he complained of progressive dyspnoea on exertion[thorax.bmj.com] […] with attached lobes; the case with the 4p12-15 deletion was described as having the left half of skull flattened, epicanthic folds and antimongoloid slant of eyes, ears deformed[doi.org]

  • Rieger Syndrome

    A threonine to proline mutation (T68P) in the second helix of the homeodomain retained DNA binding activity with the same apparent KD and only about a 2-fold reduction in[ncbi.nlm.nih.gov] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q13- Congenital[icd10data.com] During a following check-up, a slight heart murmur was noticed. We were referred to have an echocardiogram taken.[daltonsstory.blogspot.com]

  • Noonan Syndrome

    […] defects, such as atrial septal defect, heart murmur Hypotonia - low muscle tone How is Noonan Syndrome Diagnosed?[dovemed.com] Clinical features are short stature, low-set ears and many minor skeletal deformities of which the commonest are pectus excavatum and cubitus valgus.[whonamedit.com] The neck is usually webbed (pterygium colli) and the ears low-set. The sternum may be deformed.[disorders.eyes.arizona.edu]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    (outer rim) of ear (over 90%) Incomplete folding of ears Chronic otitis media (ear infections) Hearing loss Mouth and speech [ edit ] Deeply grooved philtrum (top lip line[en.wikipedia.org] Clinical features are short stature, low-set ears and many minor skeletal deformities of which the commonest are pectus excavatum and cubitus valgus.[whonamedit.com] 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]

  • Frontometaphyseal Dysplasia

    Despite the presence of a heart murmur described in several patients, a specific cardiac lesion has not been diagnosed.[ncbi.nlm.nih.gov] folded over ( Figure 1B ), slightly arched legs with feet turning inward, and scoliosis.[blackstar.forp.usp.br] Deafness develops during adulthood because sclerosis narrows the internal acoustic foramina and middle ear or may cause deformities of the ossicles.[merckmanuals.com]

  • IMAGE Syndrome

    & Feeding 70%-90% VII – Facial palsy (one side or both) Images of Facial Palsy 40% Factsheet about CHARGE Outer Ear Short, wide ear with little or no lobe, “snipped off” helix[chargesyndrome.org] Clinical features, which vary widely, include short stature, webbed neck, low-set ears, drooping eyelids, skeletal deformities, hearing problems, reduced secondary sexual[encyclopedia.com] murmurs Extreme nearsightedness An abnormally curved spine Flat feet When to see a doctor If you think that you or your child may have Marfan syndrome, talk to your doctor[mayoclinic.org]

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