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351 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] […] dislocation of the hips Talipes equinovarus (clubfoot)[web.archive.org]

  • Congenital Muscular Dystrophy

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

  • Neuronal Ceroid Lipofuscinosis

    […] ceruloplasmin deficiency Hereditary chronic pancreatitis Hereditary clubfoot due to 17q23.1-q23.2 microduplication Hereditary clubfoot due to 5q31 microdeletion Hereditary clubfoot[csbg.cnb.csic.es] Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk.[ghr.nlm.nih.gov] Low or weak muscle tone 0001252 Ocular albinism Absent pigmentation in the eye 0001107 Seizures Seizure 0001250 Visual loss Loss of vision Vision loss [ more ] 0000572 30%[rarediseases.info.nih.gov]

  • Spondyloepiphyseal Dysplasia Congenita

    In spite of generalized muscle hypotonia, the patient's response to atracurium was normal.[journals.lww.com] Clinical description Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial[orpha.net] Hypotonia (diminished muscle tone), muscle weakness, and/or stiffness is exhibited in most cases.[encyclopedia.com]

  • Spinal Muscular Atrophy Type 3

    Carmell mom to Kara, idiopathic scoliosis, Blake 19, GERD and Braydon 14, VACTERL, GERD, DGE, VEPTR #137, thoracic insufficiency, rib anomalies, congenital scoliosis, missing[scoliosis.org] They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia).[ispub.com] […] weakness and hypotonia caused by the degeneration of the lower motor neurons in the spinal cord and the brainstem nuclei.[link.springer.com]

  • Mulibrey Nanism Syndrome

    Muscle hypotonia is frequently seen and newborns often have characteristic abnormalities of the head and face including a triangularly shaped face.[rarediseases.org] […] heart disease syndrome Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Short stature, pituitary and cerebellar defect and small sella[icdlist.com] Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin[genecards.org]

  • Myoadenylate Deaminase Deficiency

    Considered a type of congenital muscular dystrophy.[mda.org.au] We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate… CONTINUE READING[semanticscholar.org] In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear[ghr.nlm.nih.gov]

  • Singleton Merten Syndrome

    Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone ( hypotonia ); progressive wasting of the muscles ( muscle atrophy[rarediseases.info.nih.gov] Ring Chromosome 22, Trisomy Mosaic Chronic Inflammatory Demyelinating Polyneuropathy Churg Strauss Syndrome Citrullinemia Cleft Palate and Cleft Lip Cleidocranial Dysplasia Clubfoot[medschool.umaryland.edu] Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles (muscle atrophy[malacards.org]

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    ; or Congenital dislocation of the hips; or Early-onset varicose veins; or Easy bruising (spontaneous or with minimal trauma); or Gingival recession; or Hypermobility of small[aetna.com] 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] Common features of XLAG include muscle spasticity, hypotonia, epilepsy, abnormal genitalia, developmental delay, and severe intellectual disability.[chginc.org]

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