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27 Possible Causes for Elbow Contracture, Persistent Notochordal Canal

  • Limb-Girdle Muscular Dystrophy Type 2J

    Contractures at the elbow, hip and knees are often seen late in the disease.[wohproject.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] of the elbows Wheelchair dependency after age 16 years Preservation of neck flexor muscle strength differentiates BMD from DMD The most common cause of death in BMD-affected[centogene.com]

  • Optic Atrophy-Intellectual Disability Syndrome

    contracture Abnormal tibial torsion Hand dysfunction Kyphosis Lordosis Scoliosis Femoral retroversion Torticollis Hip dysplasia Hip contractures Hallux valgus Knee contractures[pediatrics.aappublications.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] One of the three children had thoracic scoliosis contractures of the elbows and knees, and clubfoot.[rarediseases.org]

  • Myelocerebellar Disorder

    Back pain Limited elbow extension Genu varum Cubitus valgus Disproportionate short-limb short stature Short femoral neck Tibial bowing Chronic otitis media Overfolded helix[mendelian.co] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Acanthosis nigricans Hydrops fetalis Bowel incontinence Small face Neuroblastoma Deep philtrum Spinal canal stenosis Midface retrusion Megalencephaly Redundant skin Hip contracture[mendelian.co]

  • Nemaline Myopathy

    […] the foot flexors and the right elbow.[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Congenital flexion contractures of the ankles, elbows, interphalangeal joints of the fingers are typical, although the neck and back are usually not involved.[rrnursingschool.biz]

  • Holt Oram Syndrome

    Additional abnormalities may affect the arms and legs including permanent fixation (contracture) of various joints, especially the knees and elbows.[rarediseases.org] notochordal canal.[els.net] Alders M, Sylva M et al. (2014) Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent[els.net]

  • Alpha-B Crystallinopathy

    The combination of scapular winging, severe weakness of hip adductors and elbow flexors, normal respiratory function, and contractures has specificity for LGMD2A. [8] Atrophy[emedicine.medscape.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] (especially of the ankles, elbow, and neck) similar to those of Emery-Dreifuss muscular dystrophy.[emedicine.medscape.com]

  • Oculo-Palato-Cerebral Syndrome

    […] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital[se-atlas.de] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital bowing of long bones Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital contractural[se-atlas.de]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    […] at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects.[mendelian.co] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] flexion contracture Fatigue Dyspnea Pallor Feeding difficulties Respiratory insufficiency Micrognathia Lower limb muscle weakness Muscle cramps Progressive muscle weakness[mendelian.co]

  • Congenital Spinal Cord Anomaly

    Generalized flexion contractures of lower limb joints, congenital Spade-like hand (congenital) 755 Other congenital anomalies of limbs Excludes: those deformities classifiable[theodora.com] Around the third week of gestation, when the cells from Hensen’s node are proliferating and migrating, there may be a focal splitting of the notochord secondary to a persistent[radiologykey.com] […] excavatum Congenital funnel chest 754.82 Pectus carinatum Congenital pigeon chest [breast] 754.89 Other Club hand (congenital) Congenital: deformity of chest wall dislocation of elbow[theodora.com]

  • Congenital Non-Progressive Ataxia

    […] arachnodactyly Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia type IV Congenital elbow[sanfordresearch.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] 2 Cone rod dystrophy Congenital absence/hypoplasia of thumb Congenital adrenal hyperplasia Congenital chloride diarrhea Congenital communicating hydrocephalus Congenital contractural[sanfordresearch.org]

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