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333 Possible Causes for Cardiomyopathy, Round Face, Thick Lips

  • Mucopolysaccharidosis 2

    Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[] Hunter syndrome usually affects how the boy looks: Large, round cheeks Broad nose Thick lips and a large tongue Bushy eyebrows Large head Slowed growth Thick, tough skin Short[]

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[] These symptoms may include kyphosis (curvature of the spine causing a “lump on the back”), joint stiffness, coarse facial features (flattened nose bridge, thick lips and an[] […] mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy[]

  • Mucopolysaccharidosis 1

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] The early signs usually are coarsening of facial features with enlarged mouth, thick lips, and eye problems that progressively become worse.[] Currently, no patient has any clinical evidence of cardiomyopathy.[]

  • 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[] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[]

  • Cri Du Chat Syndrome

    It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[] […] lower lip vermilion Increased volume of lower lip Plump lower lip Prominent lower lip [ more ] 0000179[] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    , myofibrillar MYPN Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) NEXN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy[] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[] lip Prominent lower lip [ more ] 0000179 Thick upper lip vermilion Full upper lip Increased volume of upper lip Plump upper lip Prominent upper lip Thick upper lip [ more[]

  • Aspartylglucosaminuria

    Moreover, hepatosplenomegaly, cardiomyopathy, and macroorchidism, but also epilepsy and abnormal paroxysmal motor events during sleep can comprise the clinical presentation[] , thick lips and a square shape of face, was found to be present long before the coarsening begins.[] Frequent infections, behavioral changes, cardiomyopathy, and changes in the facial skin have also been reported in association with this LSD.[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Hypertrophic cardiomyopathy. RAS-MAPK genes.[] lips (6) Loose skin (7) HRAS mutations 4.[] face Full cheeks Spastic gait Aspiration Broad neck Hypomimic face Strabismus Recurrent respiratory infections Feeding difficulties Hyperactivity Neonatal hypotonia Prominent[]

  • Prader-Willi Syndrome

    Right-sided hypertrophic cardiomyopathy is a common complication in young adults with marked obesity, and has been one of the more common causes of mortality in the past.[] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[] A frequent feature generally overlooked is thick saliva at the edges of the mouth. Patients also tend to be relatively insensitive to pain.[]

  • Velocardiofacial Syndrome

    (philtrum), blue coloring under the eyes, small outer ears, thick outer rims of the ear, two different sized ears and nasal sounding speech secondary to cleft palate.[] VFCS typically presents with abnormal shapes of structures in the face; with cleft palate, a term for incomplete fusion of the palate causing feeding problems.[] […] fingers, small head circumference (microcephaly), recessed jaw (retrognathia), tubular nose, flat cheeks, long upper jaw, long vertical groove in the middle of the upper lip[]

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