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129 Possible Causes for Cardiomyopathy, Delayed Speech and Language Development, Round Face

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] […] 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[ncbi.nlm.nih.gov] MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[symptoma.com] Main symptoms and co-morbidities for MPS-II include: Severe airway obstruction Skeletal deformities Cardiomyopathy Neurological decline Hearing loss and otitis Reasons to[prnewswire.com]

  • Cri Du Chat Syndrome

    In general, individuals have delayed speech and language development, and some never develop spoken language.[ncbi.nlm.nih.gov] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov] 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[icd9data.com]

  • Pallister W Syndrome

    Takotsubo Cardiomyopathy Treatment There are no evidence-based guidelines for treating takotsubo cardiomyopathy.[health.harvard.edu] Children have a round face, with wide eyebrows and mild synophrys, hypertelorism, a prominent and high nasal bridge with anteverted nostrils, a long philtrum and a thin upper[ojrd.biomedcentral.com] face and developmental delay syndrome (disorder) {715987000, SNOMED-CT } Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) {722389002,[phinvads.cdc.gov]

  • Neuhauser Syndrome

    Hypertrophic cardiomyopathy in Donohue syndrome. Cardiology in the Young 2016; 26: 815-8 - Kirkwood A, Stuart G, Harding L.[sites.uclouvain.be] BRAIN MYELINATION NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia,[rgd.mcw.edu] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov]

  • Multicore Myopathy

    Multicore myopathy and restrictive cardiomyopathy were diagnosed. Literature concerning the coexistence of multicore myopathy and cardiomyopathy is reviewed.[ncbi.nlm.nih.gov] speech and language development Cryptorchidism Strabismus Hypokinesia Type 1 muscle fiber predominance Abnormality of the thorax Dysphagia Milia Increased connective tissue[mendelian.co] .  Facial dysmorphism is common and includes micrognathia, a round face with drooping of the lower lids, and prominent ears.  Skin changes can include follicular hyperkeratosis[slideshare.net]

  • Velocardiofacial Syndrome

    […] or language disorder 759.8 Other specified anomalies 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS References McDonald-McGinn,[genedx.com] 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.[symptoma.com] Specimen: 2-5 mL Blood - Lavender Top Tube Alternative Specimen: Oral Rinse (30-40 mL) Buccal Swabs Billing ICD Codes: 749 Cleft palate and cleft lip 315.3 Developmental speech[genedx.com]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    Hypertrophic cardiomyopathy. RAS-MAPK genes.[revespcardiol.org] […] or language disorder 759.8 Other specified anomalies 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS Forms and Documents Test Details[genedx.com] Children have a round face, with wide eyebrows and mild synophrys, hypertelorism, a prominent and high nasal bridge with anteverted nostrils, a long philtrum and a thin upper[ojrd.biomedcentral.com]

  • Dubowitz Syndrome

    Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure.[emedicine.medscape.com] speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com]

  • Long QT Syndrome 8

    Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy.[ncbi.nlm.nih.gov] Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language.[ghr.nlm.nih.gov] Subclinical Cardiomyopathy and Long QT Syndrome: An Echocardiographic Observation. Congenital Heart Disease , Vol. 8, Issue. 4, p. 352.[cambridge.org]

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