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190 Possible Causes for Round Face, Spinal Stenosis, Umbilical Hernia

  • Mucopolysaccharidosis 2

    Physical findings: • Coarse facial features; • Narrowing of the cervical spinal canal (spinal stenosis); • Enlarged tongue (macroglossia) and vocal cords; • Enlarged liver[secure.ssa.gov] 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]

  • Mucopolysaccharidosis

    Craniometric measurements were performed and the images were assessed for bony anomalies, spinal stenosis and spinal cord compression.[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 1

    Narrowing of the spinal canal ( spinal stenosis ) in the neck can compress and damage the spinal cord.[ghr.nlm.nih.gov] Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] […] the subcortical white matter with expanded, fluid-filled perivascular spaces, spinal stenosis, and cord compression. 7 The first neuroradiologic studies in MPS were performed[ajnr.org]

  • Aarskog-Scott Syndrome

    Atrophy Spinocerebellar Ataxia Spondyloepiphyseal Dysplasia Stickler Syndrome Stuve-Wiedemann Syndrome Succinic Semialdehyde Dehydrogenase Deficiency Supravalvar Aortic Stenosis[hfi-ivf.com] 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]

  • Kniest Dysplasia

    Lumbar lordosis with spinal stenosis responds to extensive lumbar laminectomy.[emedicine.medscape.com] 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] Other features of the disease include the presence of tracheal stenosis, tracheomalacia, blepharoptosis, proptosis, glossoptosis, umbilical or inguinal hernia, and motor delay[symptoma.com]

  • Weaver Syndrome

    MRI's demonstrated stenosis of the cervical spine but no evidence of spinal cord compression. All three had broad femoral necks.[nature.com] 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]

  • Marshall-Smith Syndrome

    Among these was an instability at the craniocervical junction with severe spinal stenosis.[ncbi.nlm.nih.gov] hernia Causes No specific gene has been linked to Marshall-Smith syndrome and other genetic background is still not yet known.[medigest.uk] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

  • Trisomy 20p

    However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis ), hypotonia (decreased muscle tone), lifelong[rarediseases.info.nih.gov] * Large ears * Mental deficiency * Poor coordination * Reduced muscle tone * Tremor * Umbilical hernia * Widely spaced eyes Prevention - Chromosome 20- duplication 20p Not[checkorphan.org] A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment[ncbi.nlm.nih.gov]

  • Robinow Syndrome

    Lumbar lordosis with spinal stenosis responds to extensive lumbar laminectomy.[emedicine.medscape.com] Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form. (c) 2007 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] Facial Abnormalities Rounded face with a broad forehead Widely spaced eyes (hypertelorism) Drooping of the eyelids (ptosis) Downwardly slanting eyelid folds Small nose with[medcaretips.com]

  • BOD Syndrome

    […] vermilion border Decreased testicular size Triangular face Glossoptosis Scapular winging Neonatal respiratory distress Protruding tongue Short 5th finger Hypoplastic pubic bone Spinal[mendelian.co] hernia, large premium atrial septal defect and cleft mitral valve, hirsutism, and mild developmental delay. {1:Brautbar et al. (2009)} suggested that even though the patient[bio2rdf.org] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com]

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