Create issue ticket

2,954 Possible Causes for Elbow and Hip Extension Limited, Mild Rib Sclerosis, Short Extremities

  • Pseudoachondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] The elbows show limited extension and the shoulders limited movement and subluxation.[boneandspine.com] He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov]

  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] To the contrary, extension and rotation of the elbow are abnormally limited. Hip extension also tends to be limited.[medicinenet.com] […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com]

  • Osteogenesis Imperfecta

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov] It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures.[patient.info]

    Missing: Elbow and Hip Extension Limited
  • Schmid Metaphyseal Chondrodysplasia

    Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees.[genecards.org] Bowing of the extremities, mild short stature and a waddling gait are evident at a young age.[ctgt.net] , leg pains, bowed legs, increased lordosis, and waddling gait; - upper extremity: - mild wrist swelling; - flexion contractures of the elbows ; - lower extremities - more[wheelessonline.com]

    Missing: Elbow and Hip Extension Limited
  • Multiple Epiphyseal Dysplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] elbow and hip extension, lax ligaments, genu valgum, varum, and recurvatum may be seen.[genedx.com] Patients carrying mutations within the five-aspartates repeat (aa 469-473) in the seventh CLR were extremely short (below -6 SD).[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com] Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement.[ncbi.nlm.nih.gov] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov]

    Missing: Elbow and Hip Extension Limited Mild Rib Sclerosis
  • Pseudohypoparathyroidism

    The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000.[en.wikipedia.org] , prevention and management of obesity and short stature, management of ossifications and accurate genetic and prenatal counselling.[doi.org] Types include: Type 1a (OMIM 103580) Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a[en.wikipedia.org]

    Missing: Elbow and Hip Extension Limited Mild Rib Sclerosis
  • Down Syndrome

    Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[journals.lww.com] […] neck and generous nuchal skin General physical features in patients with Down syndrome may include the following: Shortened extremities Short, broad hands, with short fifth[emedicine.com] Growth retardation was noted in only three patients, with only one of them exhibiting extreme short stature, defined as height below the 5th percentile based on normative[journals.lww.com]

    Missing: Elbow and Hip Extension Limited Mild Rib Sclerosis
  • Shwachman Syndrome

    Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows.[ncbi.nlm.nih.gov] Plain film Skeletal features: shortened extremities cup deformity of ribs Ultrasound Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation[radiopaedia.org] Patient characteristics Growth failure resulted in an extremely short stature in some patients, but was never disproportionate of nature.[bloodjournal.org]

    Missing: Elbow and Hip Extension Limited Mild Rib Sclerosis
  • Thalassemia

    A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. The lack of oxygen occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder. No Symptoms Alpha thalassemia silent carriers generally have[…][web.archive.org]

    Missing: Elbow and Hip Extension Limited Mild Rib Sclerosis