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354 Possible Causes for Joint Contracture, 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[consultant360.com] Major clinical manifestations include joint contractures, obstructive and restrictive airway disease, cardiac disease, skeletal deformities and often mental retardation.[ingentaconnect.com] […] 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[ncbi.nlm.nih.gov]

  • 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).[news-medical.net] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] Early signs and symptoms of MPS II include ear/sinus infections and umbilical hernia, behavioral disturbance, and skeletal anomalies.[centogene.com]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] 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).[news-medical.net] 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[ghr.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    contractures. ( 27551683 ) Griffin L.B....Keegan C.E. 2016 6 A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel[malacards.org] 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[en.wikipedia.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

  • Lipodystrophy

    No patient had umbilical hernia.[dmsjournal.biomedcentral.com] Significant proportions of patients have residual weakness, muscle atrophy, joint contractures, and calcinosis.[ncbi.nlm.nih.gov] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[rarediseases.org]

  • Kniest Dysplasia

    hernia 0001537 Showing of 53 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov] TREATMENT: prevent joint contractures and muscle atrophy; hearing and eye care[orthopaedicsone.com] Other features of the disease include the presence of tracheal stenosis, tracheomalacia, blepharoptosis, proptosis, glossoptosis, umbilical or inguinal hernia, and motor delay[symptoma.com]

  • Schwartz-Jampel Syndrome

    hernia ; Weak voice ; Wrist flexion contracture Associated Genes HSPG2 (Withdrawn symbols: PRCAN, SJS1, perlecan ) Mouse Orthologs Hspg2 (Withdrawn symbols: AI852380, Plc[mousephenotype.org] Schwartz-Jampel syndrome is a rare inherited autosomal recessive disorder characterized by generalized myotonia, joint contractures, skeletal abnormalities and facial dysmorphism[ncbi.nlm.nih.gov] […] back [ more ] 0002808 Mask-like facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Micrognathia Little lower jaw Small jaw[rarediseases.info.nih.gov]

  • Arthrogryposis Multiplex Congenita

    […] cord Hypertelorism Pulmonary hypoplasia Retardation of the growth of the patient Fetal akinesia Hernia either umbilical or inguinal Scoliosis Genital deformities such as[healthzene.com] Prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound.[ncbi.nlm.nih.gov] Round face with capillary hemangioma and slightly small jaw.[scielo.br]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Pseudodiastrophic dysplasia 0 *Dwarfism *Heart Defects, Congenital *Hernia, Umbilical.[reference.md] contractures generalized epiphyseal ossification delay Respiratory Lung: restrictive lung disease Chest External Features: small thorax Head And Neck Ears: small pinnae Skin[malacards.org] contractures Sea-blue histiocytosis Sebocystomatosis Severe dermatitis-multiple allergies-metabolic wasting syndrome Spinocerebellar ataxia type 12 Spondylocarpotarsal synostosis[csbg.cnb.csic.es]

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[ncbi.nlm.nih.gov] contracture of the hand 0009473 Kyphosis Hunched back Round back [ more ] 0002808 Limited elbow extension Decreased elbow extension Elbow limited extension Limitation of[rarediseases.info.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

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