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33 Possible Causes for Severe Osteoarthropathy, Severely Disproportionate Short Stature

  • Pseudoachondroplasia

    Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] Definition A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower[uniprot.org]

  • Anauxetic Dysplasia

    TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TGFB1 Diaphyseal dysplasia Camurati-Engelmann TNFRSF11A Familial expansile osteolysis, Osteopetrosis, severe[genda.com.ar] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] […] dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type SLC29A3 Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome SLCO2A1 Hypertrophic osteoarthropathy[genda.com.ar]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.[mendelian.co] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org]

  • Neuronal Ceroid Lipofuscinosis

    CPVT CPXD Cranio-osteoarthropathy Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Craniocerebellocardiac dysplasia Craniodiaphyseal dysplasia Cranioectodermal dysplasia[csbg.cnb.csic.es] short stature in humans; valoctocogene roxaparvovec, an AAV5 vector and factor VIII gene therapy drug development candidate for the treatment of severe hemophilia A; BMN[pressoracle.com] […] infantile form CPTII, adult-onset form CPTII, hepatocardiomuscular form CPTII, lethal systemic form CPTII, myopathic form CPTII, neonatal form CPTII, severe infantile form[csbg.cnb.csic.es]

  • Spondyloepiphyseal Dysplasia Congenita

    The epiphysis are small and precocious osteoarthropathy was observed involving small and large joints.[pubman.mpdl.mpg.de] Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately[diseaseinfosearch.org] (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially[dovemed.com]

  • Platyspondyly

    Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.[mendelian.co] Top matches: Low match BRACHYOLMIA TYPE 3; BCYM3 Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal[mendelian.co] Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly[sajr.org.za]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TGFB1 Diaphyseal dysplasia Camurati-Engelmann TNFRSF11A Familial expansile osteolysis, Osteopetrosis, severe[genda.com.ar] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately[rarediseases.info.nih.gov]

  • Congenital Scoliosis due to Bony Malformation

    Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood Patients with Brachyolmia Type 3 generally[dovemed.com] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.[rarediseases.info.nih.gov]

  • Parastremmatic Dwarfism

    TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TGFB1 Diaphyseal dysplasia Camurati-Engelmann TNFRSF11A Familial expansile osteolysis, Osteopetrosis, severe[genda.com.ar] Physical exaniination at 13 years (Fig. 1) showed severe, disproportionate shortness of stature caused by rhizomesomelic shortness with a semiflexed posture (clinical and[vdocuments.mx] […] dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type SLC29A3 Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome SLCO2A1 Hypertrophic osteoarthropathy[genda.com.ar]

  • Prata-Libéral-Gonçalves Syndrome

    Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.[mendelian.co] […] metacarpal Waddling gait Short neck Short femoral neck Joint laxity Abnormal joint morphology Disproportionate short-trunk short stature Enlarged joints Autosomal recessive[mendelian.co] Top matches: Low match BRACHYOLMIA TYPE 3; BCYM3 Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal[mendelian.co]

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