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12 Possible Causes for Skeletal Dysplasia, Unable to Make a Fist

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  • Kniest Dysplasia

    The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias.[books.google.ro] Some patients develop frank joint contractures and many are unable to make a tight fist due to inflexibility of the interphalangeal joints.[disorders.eyes.arizona.edu] The combined use of 3D-CT with ultrasonography is a power tool for the prenatal diagnosis of congenital skeletal dysplasias.[ncbi.nlm.nih.gov]

  • Marchesani-Weill Syndrome

    dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating[ipfs.io] She had joint stiffness at the elbows with reduced motility (supination 23 ) and was unable to make a fist with both hands.[ncbi.nlm.nih.gov] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[icd9data.com]

  • Geleophysic Dysplasia

    Abstract Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and joint contractures.[ncbi.nlm.nih.gov] Here is a few photo's for you to view, we did a few experimental surgeries on both her hands because she has claw hand deformity her hands are unable to make a fist, & her[angelfire.com] Abstract Geleophysic dysplasia is an extremely rare acromelic skeletal dysplasia resembling lysosomal storage disease.[ncbi.nlm.nih.gov]

  • Median Neuropathy

    The majority of cases are related to genetic conditions which result in skeletal dysplasia or altered connective tissue characteristics, direct injury to the median nerve[ncbi.nlm.nih.gov] […] to make a fist.[en.wikipedia.org] More specifically, the patient's index and middle finger cannot flex at the MCP joint , while the thumb usually is unable to oppose.[en.wikipedia.org]

  • Autosomal Dominant Larsen Syndrome

    Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.[ncbi.nlm.nih.gov] Some patients develop frank joint contractures and many are unable to make a tight fist due to inflexibility of the interphalangeal joints.[disorders.eyes.arizona.edu] SNP ID Clin Chr 10 pos Variation AA Info Type rs1006427623 uncertain-significance, Spondyloepiphyseal dysplasia, Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia[genecards.org]

  • Kyphoscoliosis

    We present the case of severe congenital kyphoscoliosis in a young girl with skeletal dysplasia.[ncbi.nlm.nih.gov] Some patients develop frank joint contractures and many are unable to make a tight fist due to inflexibility of the interphalangeal joints.[disorders.eyes.arizona.edu] Underlying conditions comprised five cases of congenital deformity with hemivertebrae and two cases of skeletal dysplasias.[ncbi.nlm.nih.gov]

  • Proximal Symphalangism

    Mutations in the GDF5 gene can cause different types of skeletal dysplasia, including brachydactyly type C (BDC) and proximal symphalangism (SYM1).[ncbi.nlm.nih.gov] These individuals usually have straight fingers and are unable to make a fist.[rarediseases.info.nih.gov] Families with skeletal dysplasias or short stature of known or suspected genetic basis will be enrolled.[clinicaltrials.gov]

  • Vitreoretinal Degeneration

    Some patients develop frank joint contractures and many are unable to make a tight fist due to inflexibility of the interphalangeal joints.[disorders.eyes.arizona.edu]

  • Chronic Recurrent Multifocal Osteomyelitis

    In contrast, Majeed syndrome is autosomal recessive and associated with microcytic CDA and no bone dysplasia or deformity.[ncbi.nlm.nih.gov] He was unable to make a fist or do a squat. He had tenderness over the greater trochanter areas bilaterally. There was no leg length discrepancy.[scirp.org] Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Majeed syndrome, the following evaluations are recommended: Skeletal[ncbi.nlm.nih.gov]

  • Spondyloepiphyseal Dysplasia Type Nishimura

    dysplasia Maroteaux type , Charcot-Marie-Tooth disease type 2C, Skeletal dysplasia , Inborn genetic diseasesPathogenic (May 24, 2018) criteria provided, multiple submitters[ncbi.nlm.nih.gov] Some patients develop frank joint contractures and many are unable to make a tight fist due to inflexibility of the interphalangeal joints.[disorders.eyes.arizona.edu] Search for more papers by this author Abstract Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar dysplasia[onlinelibrary.wiley.com]

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