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671 Possible Causes for Ectopia Lentis, Muscle Hypotonia

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility and increased risk of rupture of the globe.[medicalhomeportal.org] […] and masticatory muscles) but no dolichocephalic skull nor long face.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[medicinman.cz] Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button[ghr.nlm.nih.gov] This second trait could cause proximal muscle weakness, hypotonia, and the eye abnormalities.[jmg.bmj.com]

  • Autosomal Dominant Mental Retardation Type 21

    Ectopia lentis, Isolated AD Clinical Characteristics Ocular Features: Ectopia lentis as an isolated finding has been known for many years although early reports did not rule[disorders.eyes.arizona.edu] A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.[mitomap.org] […] weakness Central hypotonia Dementia Increased CSF lactate Generalized tonic seizures Epilepsia partialis continua Visual loss Talipes cavus equinovarus Focal T2 hypointense[mendelian.co]

  • Methylmalonic Acidemia with Homocystinuria Type cblF

    lentis Skin Symptoms Coarse facies ( Table 66-42 ) Skin lesions (vesicobullous lesions, rashes, photosensitivity, hyperkeratosis, ichthyosis, ulcers, nodules, laxity) ( Tables[ommbid.mhmedical.com] Biallelic SUCLA2 pathogenic variants are associated with hypotonia, muscle atrophy presenting around ages three to six months (with mtDNA depletion, complex I, III, and IV[ncbi.nlm.nih.gov] […] attacks ( Table 66-37 ) Ocular Symptoms Cataracts ( Table 66-38 ) Corneal opacity ( Table 66-39 ) Macular cherry red spot ( Table 66-40 ) Retinitis pigmentosa ( Table 66-41 ) Ectopia[ommbid.mhmedical.com]

  • Alpers Syndrome

    Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.aao.org] , hypotonia generally arises in infants before they are 6 months old, their muscles begin wasting away, and there is delay in psychomotor learning (learning basic skills like[en.wikipedia.org] In addition, affected individuals may develop weak muscle tone (hypotonia) that worsens until they lose the ability to control their muscles and movement.[ghr.nlm.nih.gov]

  • Muscular Dystrophy-Dystroglycanopathy Type C4

    lentis, isolated, autosomal dominant Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Ehlers-Danlos syndrome, hydroxylysine-deficient Ehlers-Danlos syndrome[pentacorelab.hu] Fukuyama congenital muscular dystrophy is a more severe disorder characterized by brain malformations, hypotonia and muscle weakness.[sema4genomics.com] lentis (MedGen UID: 342716), and stiff skin syndrome (MedGen UID: 348877).[invitae.com]

  • Marfan Syndrome

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] The two may have also had skeletal muscle hypotonia leading to their melancholic expressions.[clinicalcorrelations.org] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org]

  • Propionic Acidemia

    L dopa and 5- hydroxytryptophan.CLINICAL FEATURES *PKU Albinism*HomocystinuriaElevated homocystine levels affect collagen , result in a Marfanoid habitus, ectopia lentis,[vdocuments.site] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov] Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia).[diseaseinfosearch.org]

  • Carnitine Transporter Deficiency

    Nonspecific features in infancy: failure to thrive, developmental delay Eyes: downward subluxation of the ocular lens ( ectopia lentis ) after age 3 ; myopia and glaucoma[amboss.com] Roughly half of clinically presenting patients present with muscle hypotonia and progressive childhood cardiomyopathy leading to heart failure.[orpha.net] Children with the childhood myopathic (cardiac) type usually present between ages two to four with heart disease (cardiomyopathy), low muscle tone (hypotonia), skeletal muscle[rarediseases.org]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse.[kumc.edu] Hypotonia is a decrease in the normal resistance offered by muscles to passive manipulation When an affected limb is shaken flapping movements of the hands appear of wider[slideshare.net] Mental retardation, ectopia lentis, sparse blond hair, genu valgum, failure to thrive, thromboembolic episodes, fatty changes of liver.[kumc.edu]

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