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17 Possible Causes for Keloid, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Congenital Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Skin changes such as hypertrophic scars or keloid formation Analyses of blood samples typically reveal slightly to markedly elevated levels of creatine kinase, but don't yield[symptoma.com] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Age of onset is in the second and third decades of life and rarely in the first. Recovery is usually complete and begins weeks to months after the onset of symptoms.[emedicine.medscape.com] […] hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis type Timothy syndrome Myokymia with neonatal epilepsy Hyperthermia induced defects Torticollis keloids[checkrare.com] retardation TANC1 Ptosis, congenital ZFHX4 Pyridoxine-dependent epilepsy ALDH7A1 Pyruvate carboxylase deficiency PC Renpenning syndrome PQBP1 Rett syndrome preserved speech[centogene.com]

  • Congenital Merosin-Positive Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Patients may also show keloids, atrophic scars, striae, and petechiae. There is no associated cardiomyopathy and intelligence is usually normal.[academlib.com] , microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia[discovery.ucl.ac.uk]

  • Myoadenylate Deaminase Deficiency

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood[ncbi.nlm.nih.gov] A more severe form of the disorder exists in which severe psychomotor retardation, autistic features, hypotonia, and nerve deafness also occur.[musculoskeletalkey.com]

  • Spastic Paraparesis-Deafness Syndrome

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] […] hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis type Timothy syndrome Myokymia with neonatal epilepsy Hyperthermia induced defects Torticollis keloids[checkrare.com] retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57 Multiple mitochondrial dysfunctions syndrome 3,[blueprintgenetics.com]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] dystroglycanopathies Diffuse joint contractures: laminin alpha-2 deficiency, collagen VI-deficient CMD Distal hyperlaxity: collagen VI-deficient CMD Hypertrophic scars or keloid[ncbi.nlm.nih.gov] retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine[se-atlas.de]

  • AMACR Deficiency

    Similarly, the single patient with sterol carrier protein X (SCPX, now named SCP2) deficiency first experienced neurologic symptoms in the second decade of life ( Ferdinandusse[medlink.com] […] hyalinisation Cellular angiofibroma Keloid-like ropy collagen Desmoid tumour of the pleura Keratin Cervicovaginal myofibroblastoma smooth muscle tumours of the urinary bladder[e-immunohistochemistry.info] retardation: Some patients Laboratory Brain MRI: White matter lesions; Cerebral & Basal ganglia atrophy 3-Methylglutaconic aciduria Metabolic acidosis Also see: Recessive[neuromuscular.wustl.edu]

  • Autosomal Dominant Myoglobinuria

    A late-onset myotubular myopathy has been also reported, which presents with milder symptoms during childhood that worsen after the first or second decade of life and that[intechopen.com] {66758006, SNOMED-CT } Acromegaloid facial appearance syndrome (disorder) {720456009, SNOMED-CT } Acromicric dysplasia (disorder) {254090007, SNOMED-CT } Acroosteolysis, keloid-like[phinvads.cdc.gov] Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.[selfdecode.com]

  • Myoglobinuria

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.[selfdecode.com] Patients typically develop follicular hyperkeratosis (keratosis pilaris) over the extensor surfaces of the arms and legs as well as abnormal keloid formation.[sites.google.com]

  • Autosomal Dominant Mental Retardation Type 5

    Signs and Symptoms Individuals with KSS present initially in a similar way to those with typical CPEO. Onset is in the first and second decades of life.[findzebra.com] […] refractive error), congenital heart defects (PDA, VSD, ASD), urinary tract malformations, specific dental abnormalities, epilepsy, and skin features (naevus flammeus, hirsutism, keloid[atlasgeneticsoncology.org] A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech.[medical-dictionary.thefreedictionary.com]

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