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520 Possible Causes for Cardiomyopathy, short, Upturned Nose

  • Mucopolysaccharidosis 1H

    Corneal opacities, hepatosplenomegaly, cardiomyopathy and upper airway obstruction are present.[pedsradiology.com] The spine develops thoracolumbar kyphosis and is short. The hands are short and thick and the fingers are stubby, with stiff flexed interphalangeal joints.[medcaretips.com] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net]

  • Costello Syndrome

    Costello syndrome can complicate fatal hypertrophic obstructive cardiomyopathy.[ncbi.nlm.nih.gov] Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[ncbi.nlm.nih.gov] […] palmar and plantar creases, loose joints, distinctive coarse facial features, skeletal abnormalities, cardiac abnormalities (cardiovascular malformation (CVM), hypertrophic cardiomyopathy[ncbi.nlm.nih.gov]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Hypertrophic cardiomyopathy. RAS-MAPK genes.[revespcardiol.org] MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies[malacards.org] Both were mentally retarded and had large mouths, patulous lips, small chins, baggy cheeks, blunt upturned noses, wide-set eyes, left internal strabismus, and malformed teeth[mitchmedical.us]

  • Coffin-Lowry Syndrome

    However, cardiomyopathy is not well characterized in CLS.[ncbi.nlm.nih.gov] Large soft hands with short, hyperextensible tapering fingers, tufted drumstick and short distal phalanges and flat feet characterize limb abnormalities.[whonamedit.com] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide fingers [ more ] 0001500 Coarse[rarediseases.info.nih.gov]

  • Spondyloepiphyseal Dysplasia Type Cantú

    , myofibrillar MYPN Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) NEXN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy[genda.com.ar] We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome. PubMed[scholar.um5.ac.ma] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[malacards.org]

  • Hypertrichotic Osteochondrodysplasia

    Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short[mendelian.co] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Broad hallux phalanx Broad bone of big toe Wide bone of big toe [ more ] 0010059 Broad ribs Wide ribs[rarediseases.info.nih.gov] Micrognathia, a short upturned nose and a short philtrum were present. The blood pressure was 190/135 mm/hg. An echocardiogram demonstrated normal heart anatomy.[ped-rheum.biomedcentral.com]

  • Noonan Syndrome

    Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation[ncbi.nlm.nih.gov] […] signalling pathways involved in short stature.[doi.org] nose Small jaw, crowding of the lower teeth Deeply grooved philtrum (top lip line), high arched palate Excess skin in the back of the neck, low hairline at the nape of the[dovemed.com]

  • Aarskog-Scott Syndrome

    Hunter Syndrome Huntington Disease Huntington Disease – Non-Disclosing Hurler Syndrome Hyaline Fibromatosis Syndrome Hydrocephalus Hypertrophic Cardiomyopathy Hypokalemic[hfi-ivf.com] 5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short nose Decreased length of nose Shortened[rarediseases.info.nih.gov] The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov]

  • CODAS Syndrome

    48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy[en.wikipedia.org] Symptoms such as syndactyly, cleft palate, short stature, and cardiac defects are seen more commonly in individuals with the autosomal recessive form of the disorder.[en.wikipedia.org] External links [ edit ] Cedars-Sinai entry WebMD abstract v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy[en.wikipedia.org]

  • Noonan Syndrome 3

    In some people, hypertrophic cardiomyopathy and pulmonary stenosis may be associated.[rarediseases.org] Watson syndrome: An autosomal dominant disorder characterized by pulmonary stenosis, café au lait spots, decreased intellectual ability, and short stature.[aafp.org] [ edit ] Small, upturned nose Ears and hearing [ edit ] Low-set ears (in over 90%) Backward-rotated ears (over 90%) Thick helix (outer rim) of ear (over 90%) Incomplete folding[en.wikipedia.org]

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