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62 Possible Causes for Achondrogenesis, Barrel Chest, Short Stature in Children

  • Achondrogenesis Type 1B

    chest short trunk short ribs horizontal ribs normal clavicles distended abdomen enlarged calvaria with normal ossification absent vertebral body mineralization non-ossified[humpath.com] See also [ edit ] Diastrophic dysplasia Achondrogenesis type 1A References [ edit ] [1] Achondrogenesis Type 1B, GeneReviews Bookshelf, 2002-2014, L. Bonafé, L.[en.wikipedia.org] There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging[diseaseinfosearch.org]

  • Diastrophic Dysplasia

    chest.[pixelscapes.com] Abstract Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity[ncbi.nlm.nih.gov] Abstract Diastrophic dysplasia (DD), an autosomal recessive skeletal dysplasia, results in short-limbed short stature, generalized joint dysplasia, and spinal, hand, foot,[ncbi.nlm.nih.gov]

  • Achondrogenesis

    chest short trunk short ribs horizontal ribs normal clavicles distended abdomen enlarged calvaria with normal ossification absent vertebral body mineralization non-ossified[humpath.com] Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence is unknown.[ghr.nlm.nih.gov] Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus.[en.wikipedia.org]

  • Spondyloperipheral Dysplasia

    chest Barrel chest 0001552 Brachydactyly Short fingers or toes 0001156 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Broad thumb Broad thumbs Wide/broad thumb[rarediseases.info.nih.gov] An infant with achondrogenesis type II.[emedicine.medscape.com] “By sharing with parents of children affected by short stature, I’m becoming aware of everything I myself have accomplished.[invivomagazine.com]

  • Skeletal Dysplasia

    Other features can include: club feet cleft palate severe osteoarthritis in the hips weak hands and feet barrel-chested appearance Diastrophic dysplasia.[webmd.com] type 1A AR Severe micromelia, thoracic hypoplasia, hydropic fetal appearance Prenatal or newborn lethality TRPV4 Metatropic dysplasia; parastremmatic dwarfism; spondyloepiphyseal[arupconsult.com] Skeletal dysplasias are a group of genetic disorders characterized by short stature. They are frequently associated with a range of orthopaedic problems.[muhealth.org]

  • Spondyloepiphyseal Dysplasia Congenita

    We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment[ncbi.nlm.nih.gov] The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.[ncbi.nlm.nih.gov] Affected children are of short stature , have clubfeet, a flat face and wide-spaced eyes. The head appears to rest directly on the torso.[medical-genetics.de]

  • Osteogenesis Imperfecta

    Bone problems can include bowing of the long bones, scoliosis (curvature of the spine), a barrel chest, and joint deformities.[oif.org] […] e Diseases of collagen, laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis[en.wikipedia.org] Despite numerous fractures, restricted activity, and short stature, most adults and children with OI lead productive and successful lives.[checkorphan.org]

  • Pituitary Dwarfism

    .• Other characteristics can include clubfeet, a cleft palate, and a barrel-chested appearance.• SED occurs approximately once in every 100,000 births. 12.[slideshare.net] […] of short stature from 14 countries.[ncbi.nlm.nih.gov] As a familial tendency to short stature is often present, genetic factors are presumed to explain short stature in many of these children.[dx.doi.org]

  • Pseudoachondroplasia

    Other characteristics can include clubfeet, a cleft palate, and a barrel-chested appearance. SED is associated with a variety of medical problems, mainly orthopedic.[pbs.org] : 2015/16 ICD-10-CM Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine Or: 2015/16 ICD-10-CM Q78.4 Enchondromatosis Approximate Synonyms Achondrogenesis[icd9data.com] These children have short stature, with short arms and legs and short fingers.[socialstyrelsen.se]

  • Spondyloepiphyseal Dysplasia

    The X-linked recessive form (SEDL) affects men and is characterized by reduced height, arm span exceeding total height, and barrel chest deformity.[ncbi.nlm.nih.gov] Abstract Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal[ncbi.nlm.nih.gov] Abstract Children with spondyloepiphyseal dysplasia present with a disproportionate short stature, platyspondyly, scoliosis, coxa vara, and clubfeet.[ncbi.nlm.nih.gov]

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