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380 Possible Causes for Cardiomyopathy, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis 2

    The boy’s past history included an umbilical hernia ( Figure 2 ) and chronic otitis media requiring myringotomy tube insertion and adenoidectomy, with conductive hearing loss[] 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[]

  • Mucopolysaccharidosis

    The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[] Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[] Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen[]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[] Currently, no patient has any clinical evidence of cardiomyopathy.[]

  • Aarskog-Scott Syndrome

    Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).The intellectual[] Hunter Syndrome Huntington Disease Huntington Disease – Non-Disclosing Hurler Syndrome Hyaline Fibromatosis Syndrome Hydrocephalus Hypertrophic Cardiomyopathy Hypokalemic[] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[]

  • Hypothyroidism

    Late symptoms in newborns (neonatal hypothyroidism): Jaundice (yellowing of the skin, eyes, and mucous membranes) Hoarse cry Poor appetite Umbilical hernia (navel protrudes[] Overt hypothyroidism may exacerbate underlying cardiac disease, but cardiomyopathy severe enough to cause heart failure is rare ( Kahaly 2005 ).[] At clinical examination, she presented with bradycardia, pale and round face, pseudohypertrophy of calf muscles and no pitting edema of the limbs.[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Pseudodiastrophic dysplasia 0 *Dwarfism *Heart Defects, Congenital *Hernia, Umbilical.[] , 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[]

  • Lipodystrophy

    No patient had umbilical hernia.[] Lamin A/C mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation. 2001; 103 : e20.[] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[]

  • Beckwith-Wiedemann Syndrome

    hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features.[] Clinically, both patients demonstrated extreme macroglossia, persistent hypoglycemia, cardiomyopathy, hemihyperplasia, renal abnormalities, abdominal organomegaly, hepatoblastoma[] They also noted persistent physical differences, including prominent occiput, prominent forehead, round face with full cheeks, deep-set eyes with epicanthic folds, hypertelorism[]

  • Hypertrichotic Osteochondrodysplasia

    Symptoms of Hypertrichotic osteochondrodysplasia Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of connective tissue Umbilical hernia Abnormality[] 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[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Hernias Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.[] Hypertrophic cardiomyopathy. RAS-MAPK genes.[] face Full cheeks Spastic gait Aspiration Broad neck Hypomimic face Strabismus Recurrent respiratory infections Feeding difficulties Hyperactivity Neonatal hypotonia Prominent[]

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