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29 Possible Causes for Hepatomegaly, Kyphosis, Postural Defect

  • Cockayne Syndrome

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[] Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely[] Homepage Rare diseases Search Search for a rare disease CAMFAK syndrome ORPHA:1317 Synonym(s): CAMAK syndrome Cataract-microcephaly-arthrogryposis-kyphosis syndrome Cataract-microcephaly-failure[]

  • Homocystinuria

    Skeletal changes include genu valgum and pes cavus, followed by dolichostenomelia, pectus excavatum or carinatum and kyphosis, or scoliosis and osteoporosis.[] […] inborn error of metabolism of sulfur amino acids due to lack of the enzyme cystathionine synthase; it is characterized by homocystine in the urine and by mental retardation, hepatomegaly[] Abnormal front-to-back curvature of the spine (kyphosis) and a collapsed lung (spontaneous pneumothorax) have also been reported in individuals with homocystinuria due to[]

  • Parkinson's Disease

    Neonates with 3-β-hydroxy-C 27 -steroid oxidoreductase deficiency show hepatomegaly, mild steatorrhea, elevated serum ALT and AST, hyperbilirubinemia, and normal serum γ-glutamyl[] Parkinson's disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, akinesia, and postural instability ( 1 ).[] The cause of PD remains unknown, but epidemiological and genetic studies have suggested that the observed loss of dopaminergic neurons in PD is due to defects in common intracellular[]

  • Hyperammonemia Type 3

    A congenital form occurs in two types: Type 1, due to deficiency of the enzyme ornithine carbamoyltransferase, is marked by vomiting, lethargy, coma, and hepatomegaly; symptoms[] Above 1000 µmol/L: About 50% survive Ammonia levels seen in inborn errors of metabolism: Urea cycle defects: 500 to 2000 µmol/L Organic acidemia: 100 to 1000 µmol/L Transport[] […] homocystinuria deficiency in cystathionine synthase homocystinuria MR, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis homocystinuria hereditary defect[]

  • Acroosteolysis Dominant Type

    […] skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat cheek bones / malar hypoplasia - Hepatomegaly[] There was no overt autonomic dysfunction; sweating and tearing were within normal range, and postural hypotension was not present.[] Some also develop abnormal curvature of the spine ( scoliosis or kyphosis ).[]

  • X-Linked Osteoporosis with Fractures

    Hepatomegaly and jaundice may also be an early diagnostic feature as bile acid metabolism is defective. Infant hypotonia is often seen.[] For some people, kyphosis causes constant pain.[] Multiple compression fractures can lead to kyphosis, a spinal deformity when the upper back curves forward, creating the appearance of a hunchback.[]

  • Inherited Congenital Spastic Tetraplegia

    […] leukoencephalopathy Rieger anomaly Right hemiplegia Retinal arterial tortuosity Heterogeneous Respiratory distress Kyphosis Hypertension Polycoria Posterior leukoencephalopathy Hepatomegaly[] […] resulting from defects in the developing central nervous system.[] Retinal detachment Astigmatism Stroke Microcornea Congenital cataract Nephropathy Hematuria Cerebral calcification Muscle cramps Migraine Hypopigmentation of the skin Lumbar kyphosis[]

  • Tibia Varum

    […] descriptions kindly provided by Michael Wall, MD, Department of Ophthalmology and Visual Sciences, Carver School of Medicine, University of Iowa.) 46 FIGURE 2 Scratch test for hepatomegaly[] Causes of Genu Varum Among children: Birth defect Postural abnormality Developmental defect Rickets Hormonal disorders Among aged people: Degenerative disorders like osteoarthritis[] […] bowing of long bones, transverse radiolucent (Looser's) lines, ligamentous laxity, flattening of skull, enlargment of the costal cartilages (rachitic rosary), and dorsal kyphosis[]

  • Dysautonomia

    Hepatomegaly, spider nevi, caput medusae, parotid hypertrophy, Dupuytren contracture, and other features of alcoholism may suggest a concurrent ethanol/nutritional neuropathy[] However, the following have been identified and may be involved: Single gene defects. Accumulation of toxins. Autoantibodies.[] […] sweating and salivation, anorexia, and apparent discomfort), seizures (due to breath-holding, febrile, and seizure disorders), dizziness, passing out Orthopedics: scoliosis, kyphosis[]

  • Ataxia Telangiectasia

    (NGS) was performed on an Iranian 5-year-old boy presented with truncal and limb ataxia, telangiectasia of the eye, Hodgkin lymphoma, hyper pigmentation, total alopecia, hepatomegaly[] Defects in speech Spider-like veins visible along the skin and eyes Recurrent lung, sinus, and ear infection Slow physical and sexual maturation How is Ataxia Telangiectasia[] Complications that can arise from A-T include: • lymphoma (cancerous tumors that are in the lymph nodes), • kyphosis (abnormal curvature of the spine) resulting in a progressive[]

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