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1,032 Possible Causes for Autosomal Recessive, Contractures of the Fingers

  • Arthrogryposis Syndrome

    ARC syndrome is passed on from parent to child in an autosomal recessive manner.[diseaseinfosearch.org] […] flexion, joint contractures of hands, fingers, hips, knees, ankles, feet, and toes Genitalia – cryptorchidism, inguinal hernia Life-threatening respiratory complications[arupconsult.com] recessive mode of inheritance.[jamanetwork.com]

  • Freeman-Sheldon Syndrome

    The autosomal recessive form, even rarer and difficult to recognize, has a more severe clinical manifestation.[ncbi.nlm.nih.gov] […] flexion, joint contractures of hands, fingers, hips, knees, ankles, feet, and toes Genitalia – cryptorchidism , inguinal hernia Life-threatening respiratory complications[arupconsult.com] This syndrome is usually inherited as an autosomal dominant trait; however, some authors have reported an autosomal an autosomal recessive form of this syndrome similar to[ncbi.nlm.nih.gov]

  • Tel Hashomer Camptodactyly Syndrome

    This report emphasizes the autosomal recessive nature of disease and documents an additional feature of hirsuitism not previously described.[ncbi.nlm.nih.gov] Note typical flexion contracture at the proximal interphalangeal joint of the 5th finger crooked), all other cases of fixed flexion contracture of the fingers (Donofrio and[rrnursingschool.biz] The inheritance is autosomal recessive with probable partial expression in the heterozygote.[ncbi.nlm.nih.gov]

  • Winchester Syndrome

    Winchester syndrome is a genetic disorder inherited in an autosomal recessive pattern.[symptoma.com] Reorder Groups Close Signs / Symptoms (17) Feet Pes cavus Show images Joints and Tendons Joint contractures Limbs Abnormality Widened metacarpal shaft Metabolic Abnormality[datagenno.com] Winchester syndrome (WS) is a rare autosomal recessive syndrome resulting in multicentric osteolysis.[ncbi.nlm.nih.gov]

  • Arthrogryposis Multiplex Congenita

    The disorder in these sibs is presumably inherited as an autosomal recessive trait. The metabolic basis for the calcium deposition has yet to be discovered.[doi.org] Wrist and Hand The wrist is often involved in a flexion contracture and the fingers may be curved and stiff as well.[orthopaedicsone.com] recessive condition with variable expression.[ncbi.nlm.nih.gov]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 autosomal recessive distal spinal muscular atrophy type 1 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1[wikidata.org] Within months a more distal muscular atrophy became evident associated with joint contractures (talipes), hand drops, and fatty finger pads.[ncbi.nlm.nih.gov] (e.g., finger deformities, pes equinus ) Spinal muscular atrophy with pontocerebellar hypoplasia Prevalence : unknown (less than 40 cases have been reported so far) Etiology[amboss.com]

  • Joint Contracture

    Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures.[ncbi.nlm.nih.gov] KEYWORDS: Flexor tendon; Interphalangeal joint contracture; Proximal interphalangeal joint contracture; Pulley; Trigger finger; Ultrasonography[ncbi.nlm.nih.gov] The clinical features of the present case are similar to those of the Emery-Dreifuss syndrome; however, this case may be inherited through an autosomal recessive trait.[ncbi.nlm.nih.gov]

  • Neurogenic Arthrogryposis Multiplex Congenita

    An autosomal recessive mode of inheritance is suggested.[jmg.bmj.com] Distal arthrogryposis (DAs) are all characterized by contractures of the fingers and toes.[encyclopedia.com] The disorder in these sibs is presumably inherited as an autosomal recessive trait. The metabolic basis for the calcium deposition has yet to be discovered.[doi.org]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome.[jfmpc.com] When Aaron was born he had bilateral clubbed feet and both hands were fisted leaving him with tight contractures in his fingers.[escobarsyndrome.blogspot.com] – AD – DA type 5 Finger contractures, ophthalmoplegia, ptosis Normal – AD, AR θ ECEL1 (AR) 4 DA type 6 Finger contractures, sensorineural hearing loss Normal – AD – DA type[iamg.in]

  • Schwartz-Jampel Syndrome

    Abstract Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia.[ncbi.nlm.nih.gov] Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations.[ncbi.nlm.nih.gov] From Wikidata Jump to navigation Jump to search autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations[wikidata.org]

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