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309 Possible Causes for Congenital Clubfoot, Muscle Hypotonia

  • Alpha-Mannosidosis

    (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy).[ismrd.org] Symptoms of the moderate form of alpha-mannosidosis include: coarse facial features hypotonia skeletal abnormalities mental retardation progressive muscle weakness hearing[egl-eurofins.com] In this report, the most common presenting symptom was hypotonia (75%), and muscle weakness was a presenting symptom in 59% of patients.[emedicine.medscape.com]

  • Ehlers Danlos Syndrome

    Other problems related to the joint hypermobility are joint instability, foot deformities such as congenital clubfoot or pes planus, temporomandibular joint dysfunction, joint[nature.com] The majority of spEDS patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity[ncbi.nlm.nih.gov] Congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot); 2.[raredr.com]

  • Ehlers-Danlos Syndrome, Type 7

    Congenital dislocation of the hips Early-onset varicose veins Easy bruising Gingival recession Hypermobility of small joints Pneumothorax/pneumohemothorax Tendon/muscle rupture[raredr.com] Major criteria are: Congenital muscle hypotonia, and/or muscle atrophy, that improves with age; Proximal joint contractures (knee, hip and elbow); and Hypermobility of distal[ehlers-danlos.com] Other problems related to the joint hypermobility are joint instability, foot deformities such as congenital clubfoot or pes planus, temporomandibular joint dysfunction, joint[nature.com]

  • Ehlers-Danlos Syndrome, Type 6

    Congenital dislocation of the hips Early-onset varicose veins Easy bruising Gingival recession Hypermobility of small joints Pneumothorax/pneumohemothorax Tendon/muscle rupture[raredr.com] Muscle hypotonia, delayed gross motor development may be evident.[ehlersdanlos.ca] Other problems related to the joint hypermobility are joint instability, foot deformities such as congenital clubfoot or pes planus, temporomandibular joint dysfunction, joint[nature.com]

  • X-Linked Intellectual Disability Type Snyder

    Talipes equinovarus MedGen UID: 3130 • Concept ID: C0009081 • Congenital Abnormality Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus[ncbi.nlm.nih.gov] SRS results from a mutation in SMS and produces a complex multi-systemic phenotype including intellectual disability, dysmorphic facies, muscle hypotonia, kyphoscoliosis,[ashg.org] , asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin,[orpha.net]

  • Congenital Muscular Dystrophy

    Fig 2 Bilateral congenital clubfoot in patient D-05 (case 2). Photograph reproduced with permission of parents.[academic.oup.com] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[nlm.nih.gov]

  • Antenatal Onset Minicore Myopathy with Arthrogryposis

    Some authors say the overall prevalence is one in 3000 [3] and others say it is one in 11000-12000 among European live births. [49] Congenital clubfoot is the most common[en.wikipedia.org] LIMBS:  Decreased muscle bulk (Egs:- SMA, Undernutrition.)  Fasciculation (SMA)  Confirm hypotoniamuscles appear flabby  Decreased resistance to passive movements of[dnbpediatrics.com] Definition of congenital myopathy: The term “congenital myopathy” is applied to muscle disorders presenting in infancy with generalized muscle weakness and hypotonia followed[slideshare.net]

  • Musculocontractural Ehlers-Danlos Syndrome

    Mutations in COL3A1 cause stigmata like thin translucent skin with visible venous pattern, congenital clubfoot or hip dislocation and characteristic facial appearance.[ojrd.biomedcentral.com] Characteristic clinical symptoms include kyphoscoliosis, muscle hypotonia, hyperextensible, thin and easy bruisable skin, atrophic scarring, hypermobility of the joints and[medical-genetics.de] ), represents an autosomal-recessive disorder characterized by typical facial appearance, wasted/Marfanoid build, pectus deformities, hyperextensible and bruisable skin, congenital[oxfordmedicine.com]

  • Wolf Hirschhorn Syndrome

    We report a case in which congenital hypospadias and clubfoot was detected prenatally at 29 weeks' gestation in association with intrauterine growth restriction.[bmcpregnancychildbirth.biomedcentral.com] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] Children with WHS have learned to walk unassisted; • as approximately 30% of individuals may have congenital heart defects, the heart should be examined.[flipper.diff.org]

  • Ehlers-Danlos Syndrome Type Progeroid

    Other problems related to the joint hypermobility are joint instability, foot deformities such as congenital clubfoot or pes planus, temporomandibular joint dysfunction, joint[nature.com] Severe short stature has been disclosed also in LRS patients, while data concerning muscle hypotonia were not available (Table 1 ).[ojrd.biomedcentral.com] Other symptoms may include low muscle tone (hypotonia), fragile bones from low bone mineral density (osteopenia), gum infections around the teeth, abnormal teeth, and uneven[diseaseinfosearch.org]

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