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260 Possible Causes for Mental Retardation, Postural Defect

  • Homocystinuria

    It is important to carry out ophthalmological examination in every case of megaloblastic anemia if associated with blurring of vision and mental retardation.[ncbi.nlm.nih.gov] Homocystinuria usually presents with ectopia lentis, mental retardation, thromboembolic complications, and skeletal abnormalities.[ncbi.nlm.nih.gov] Classic homocystinuria presents initially with ectopia lentis, mental retardation, seizures and marfanoid features.[symptoma.com]

  • 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[news-medical.net] Cockayne syndrome is a rare autosomal recessive condition producing a dwarfed, mentally retarded infant or child.[ncbi.nlm.nih.gov] The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper[ncbi.nlm.nih.gov]

  • Craniodiaphyseal Dysplasia

    In some cases, a postural defect in the metaphyses may also be noted.[primehealthchannel.com] Hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation.[ncbi.nlm.nih.gov] Página 320 - Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur[books.google.es]

  • Cerebro-Oculo-Facio-Skeletal 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[news-medical.net] retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).[ncbi.nlm.nih.gov] We report a 14-year-old male, born to consanguineous parents, with microcephaly, intracranial calcification, severe mental retardation, cataracts, optic atrophy, pigmentary[ncbi.nlm.nih.gov]

  • Ataxia Telangiectasia

    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[dovemed.com] They both had ataxia with cerebellar atrophy and mental retardation.[ncbi.nlm.nih.gov] A 25years old male patient, who were diagnosed with AT and mental retardation, was admitted to the emergency department due to fatigue, nausea and headache.[ncbi.nlm.nih.gov]

  • PIBIDS 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[news-medical.net] Jorizzo JL, Crounse RG, Wheeler CE Jr (1980) Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities.[link.springer.com] […] trichothiodystrophy, photosensitive An autosomal recessive disorder (OMIM:601675) characterised by sulphur-deficient brittle hair and nails, ichthyosis, mental retardation[medical-dictionary.thefreedictionary.com]

  • Ataxic Cerebral Palsy

    The postural defects and resulting joint instability may lead to increased wear and tear of the weight bearing joints in the body.[medhelp.org] Other symptoms of Ataxic CP can be similar to other forms of cerebral palsy such as involuntary movements, seizures, impaired sight or hearing, and mental retardation.[ataxiccerebralpalsyhelp.com] While ataxic cerebral palsy may be associated with mental retardation, most patients have normal intelligence .[berkowitzlawfirm.com]

  • Cerebro-Oculo-Facio-Skeletal Syndrome 1

    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[news-medical.net] retardation • Involuntary eye movements These symptoms can either be moderate or severe in intensity.[onlymyhealth.com] There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation.[abcam.com]

  • Autosomal Recessive Spastic Paraplegia Type 32

    SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system.[malacards.org] retardation, pes cavus, thin CC SPG14 ( Vazza et al ., 2000 ) 3q27–q28 – Complex 30 No Yes Pes cavus, mental retardation, visual agnosia, memory deficiency SPG15 ( Hughes[academic.oup.com] Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem[ncbi.nlm.nih.gov]

  • Waisman Syndrome

    […] early onset with mental retardation An extremely rare (one cohort documented in the world literature) condition (OMIM:311510) characterised by early-onset parkinsonism (postural[medical-dictionary.thefreedictionary.com] Abstract Linkage of the gene responsible for an X-linked early onset parkinsonism disorder with mental retardation (McKusick 311510) to DNA probes that detect restriction[ncbi.nlm.nih.gov] Acronym WSMN Synonyms Basal ganglion disorder with mental retardation BGMR Parkinsonism, early-onset, with mental retardation WSN Keywords Any medical or genetic information[uniprot.org]

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