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3,493 Possible Causes for Abnormalities of Proximal Metaphyses of Tibiae and Fibulae, Mild Rib Sclerosis, Short Extremities

  • 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] […] of proximal femur Proximal tibia Proximal fibula Distal radius Distal ulna Anterior cupping of ribs Splayed ribs Sclerosis of ribs Irregularity of acetabular roof Note that[checkorphan.org] Bowing of the extremities, mild short stature and a waddling gait are evident at a young age.[ctgt.net]

  • 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: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae
  • Shwachman Syndrome

    There is mild platyspondyly and generalised shortening of ribs and long bones.[bmcpediatr.biomedcentral.com] 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]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae
  • Pseudoachondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] 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] Height is normal at birth but then goes into the less than fifth percentile by age 2 Short extremities Misalignment of the lower extremities with bowing on one side and knock[hopkinsmedicine.org]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae
  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] […] 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] The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the[medicinenet.com]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae
  • 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: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae 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: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae 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.medscape.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: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae Mild Rib Sclerosis
  • Thalassemia

    Summary Epidemiology Exact prevalence is unknown but annual incidence at birth of symptomatic BT is estimated at 1/100,000 worldwide. The disease was initially described in the Mediterranean basin but severe forms of BT frequently occur throughout the Middle East, South East Asia, India and China. Population[…][orpha.net]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae Mild Rib Sclerosis
  • Asphyxiating Thoracic Dysplasia

    There is mild platyspondyly and generalised shortening of ribs and long bones.[bmcpediatr.biomedcentral.com] Short extremities are common with occasional postaxial hexadacyly.[mirc.luriechildrens.org] […] hypoplasia and other skeletal anomalies (scoliosis, short extremities).[neocyst.de]

    Missing: Abnormalities of Proximal Metaphyses of Tibiae and Fibulae