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533 Possible Causes for Short Disproportionate Stature

  • Dyggve-Melchior-Clausen Syndrome

    It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies.[ncbi.nlm.nih.gov] short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Hyperlordosis Prominent[rarediseases.info.nih.gov] Disproportionate short stature usually occurs after 18 months.[rarediseases.info.nih.gov]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[diseaseinfosearch.org] Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening,[ctgt.net] short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.][ebi.ac.uk]

  • Pseudoachondroplasia

    Abstract Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset[ncbi.nlm.nih.gov] Abstract Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis[ncbi.nlm.nih.gov] Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by disproportionate short stature and precocious osteoarthritis.[ncbi.nlm.nih.gov]

  • Pelviscapular Dysplasia

    Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ...[kegg.jp] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[mendelian.co] […] artery Proximal placement of thumb Limited elbow movement Biliary tract abnormality Ureteral duplication Diastasis recti Communicating hydrocephalus Anterior hypopituitarism Short[mendelian.co]

  • Hypochondroplasia

    Abstract Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature.[ncbi.nlm.nih.gov] BACKGROUND: Hypochondroplasia (HCH; OMIM 146000) is a common autosomal dominant skeletal dysplasia characterized by disproportionate short stature, short extremities, relative[ncbi.nlm.nih.gov] Abstract Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly[ncbi.nlm.nih.gov]

  • Achondroplasia

    Abstract Achondroplasia is a human bone genetic disorder of the growth plate and is the most common form of inherited disproportionate short stature.[ncbi.nlm.nih.gov] Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs[biomarin.com] Abstract Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands.[ncbi.nlm.nih.gov]

  • Leri-Weill Dyschondrosteosis

    Conclusion: NPR2 mutations account for 3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX[abstracts.eurospe.org] disproportionate stature, Madelung deformity of the wrist) and molecular genetic examination (complete deletion of SHOX ).[biomed.papers.upol.cz] Abstract Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic[ncbi.nlm.nih.gov]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk.[ncbi.nlm.nih.gov] short stature with a short trunk, barrel chest and absence of systemic complications.[ncbi.nlm.nih.gov] This progressive skeletal disorder which manifests in childhood is characterized by disproportionate short stature with short neck and trunk, barrel chest and absence of systemic[ncbi.nlm.nih.gov]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff[malacards.org] Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck[ncbi.nlm.nih.gov] short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay[orpha.net]

  • Peters Anomaly

    disproportionate stature, development delay and dysmorphic facial features.[ncbi.nlm.nih.gov] Two cousins and an unrelated patient, all offspring of consanguineous parents, presented with Peters anomaly, unusual facial appearance, disproportionate short stature, retarded[ncbi.nlm.nih.gov] Peters’ plus syndrome includes short disproportionate stature, developmental delay, dysmorphic facial features, cardiac, genito-urinary, and central nervous system malformation[eyewiki.aao.org]

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