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278 Possible Causes for Joint Stiffness, 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] […] 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] Bone and joint involvement leads to skeletal deformities and joint stiffness.[symptoma.com]

  • 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] stiffness, and heart disease MPS IS - Aortic valve disease, corneal clouding, and joint stiffness; normal intelligence and stature MPS II (severe) – Pebbly ivory skin lesions[emedicine.medscape.com] 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]

  • 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] This is often true for spinal deformities such as scoliosis, hip conditions, knee complications and joint stiffness.[chop.edu] Other features of the disease include the presence of tracheal stenosis, tracheomalacia, blepharoptosis, proptosis, glossoptosis, umbilical or inguinal hernia, and motor delay[symptoma.com]

  • 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] Round face with capillary hemangioma and slightly small jaw.[scielo.br] Arthrogryposis multiplex congenita (AMC) is a complex disorder that leads to joint stiffness and deformities in 2 or more joints in afflicted children.[ncbi.nlm.nih.gov]

  • Inguinal Hernia

    See also the section specifically on Umbilical Hernias.[hernia.org] It has a roof facing anteriorly, a floor facing posteriorly, a superior (cranial) wall, and an inferior (caudal) wall.[emedicine.medscape.com] […] are stiff in the morning?[lifespan.org]

  • Familial Visceral Myopathy

    hernia Anonychia Aganglionic megacolon Abdominal distention ... ...[familydiagnosis.com] hernia[csbg.cnb.csic.es] face Broad forehead Micrognathia Low-set, posteriorly rotated ears Prominent nasal bridge Anteverted nares Narrow chest Hyperparathyroidism Arachnodactyly Joint stiffness[familydiagnosis.com]

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] stiffness Stiff joint Stiff joints [ more ] 0001387 Large hands large hand 0001176 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%[rarediseases.info.nih.gov]

  • Lipodystrophy

    No patient had umbilical hernia.[dmsjournal.biomedcentral.com] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[rarediseases.org] stiffness.[clinicaladvisor.com]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Pseudodiastrophic dysplasia 0 *Dwarfism *Heart Defects, Congenital *Hernia, Umbilical.[reference.md] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] PITUITARY HORMONE DEFICIENCY, COMBINED, 2 PITUITARY HORMONE DEFICIENCY, COMBINED, 3 PITUITARY HORMONE DEFICIENCY, COMBINED, 4 Winkelman Bethge Pfeiffer syndrome Dwarfism stiff[sites.google.com]

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