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Results 1 - 10 of 12 for Thanatophoric dysplasia type 1
  1. Genetics Home Reference: Thanatophoric dysplasia From the National Institutes of Health (National Library of Medicine)  
    ... Registry: Thanatophoric dysplasia, type 2 Genetic Testing Registry: Thanatophoric dysplasia type 1 You might also find information on the diagnosis or management of thanatophoric dysplasia in Educational resources and Patient support . General information ...
  2. Thanatophoric Dysplasia (Nemours Foundation)  
    ... birth, children are, on average 40 cm long. Thanatophoric dysplasia type 1 is more common and is characterized by curved long bones, especially the femur , and flat vertebral bodies. A straight femur , taller ... dysplasia type 2. Face & Skull Type I: Large cranium ...
  3. Cartilage Hair Hypoplasia (Nemours Foundation)  
    ... Epiphyseal Dysplasia Primordial Dwarfism Pseudoachondroplasia Spondylo-Epiphyseal ... the condition in an inbred Amish population (1). The term “metaphyseal” relates to the metaphysis , which ...
  4. Multiple Epiphyseal Dysplasia (Nemours Foundation)  
    ... Epiphyseal Dysplasia Primordial Dwarfism Pseudoachondroplasia Spondylo-Epiphyseal ... occurs in approximately 9 in 100,000 live births (4). Initially, two types of MED were identified: Fairbank Type (severe) and ...
  5. Spondyloepiphyseal Dysplasia (Nemours Foundation)  
    ... Collagen Type II (COL2A1) found on Chromosome 12 (1). Type II collagen is a structural protein present in ...
  6. Primordial Dwarfism (Nemours Foundation)  
    ... States and Canada giving a rough estimate of 1 in 3 million. How MOPD Type II Is Inherited MOPDII has an autosomal recessive ... Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II ... Genet A. 2004 Sep 15;130A(1):55-72. Rauch A, Thiel CT, Schindler D, ...
  7. Kniest Dysplasia (Nemours Foundation)  
    ... Center for Skeletal Dysplasias at John Hopkins University Type II Collagen Conditions Clinical Summaries Trusted Insights from Nemours' KidsHealth Trusted Insights from Nemours' KidsHealth.org #1 Most-Visited Children's Health Site From Nemours' KidsHealth ...
  8. Morquio Syndrome (Nemours Foundation)  
    ... Epiphyseal Dysplasia Primordial Dwarfism Pseudoachondroplasia Spondylo-Epiphyseal ... (4). The frequency of Morquio syndrome is 1 in 640,000 births (7). How Morquio Syndrome ...
  9. Metatropic Dysplasia (Nemours Foundation)  
    ... Epiphyseal Dysplasia Primordial Dwarfism Pseudoachondroplasia Spondylo-Epiphyseal ... word “Metatropos”, meaning "changing form." Clinically, this dysplasia is one that progresses over time. Metatropic dysplasia is a ...
  10. Dwarfism (National Library of Medicine)  
    ... 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 ...
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