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Results 1 - 10 of 13 for Thanatophoric "dysplasia," type 2
  1. Genetics Home Reference: Thanatophoric dysplasia From the National Institutes of Health (National Library of Medicine)  
    ... providers. Gene Review: Thanatophoric Dysplasia Genetic Testing Registry: Thanatophoric dysplasia, type 2 Genetic Testing Registry: Thanatophoric dysplasia type 1 You ...
  2. Thanatophoric Dysplasia (Nemours Foundation)  
    ... bodies, and a cloverleaf skull are typical of Thanatophoric dysplasia type 2. Face & Skull Type I: Large cranium and fontanelle ...
  3. 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 ...
  4. Genetics Home Reference: Dwarfism From the National Institutes of Health (National Library of Medicine)  
    ... M syndrome achondrogenesis achondroplasia asphyxiating thoracic dystrophy atelosteogenesis type 2 campomelic dysplasia cartilage-hair hypoplasia Cockayne syndrome congenital ...
  5. Dwarfism (National Library of Medicine)  
    A dwarf is a person of short stature - under 4' 10" as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, ...
  6. Primordial Dwarfism (Nemours Foundation)  
    ... having another child with MOPDII. Causes of MOPD Type II Everyone has two copies of a gene called pericentrin (PCNT). MOPDII ... slowed in these children and can be delayed 2 - 5 years behind the actual ... has. Associated Medical ...
  7. Cartilage Hair Hypoplasia (Nemours Foundation)  
    ... Epiphyseal Dysplasia Primordial Dwarfism Pseudoachondroplasia Spondylo-Epiphyseal ... Hair Hypoplasia (CHH) is also known as metaphyseal dysplasia, McKusick type. The disorder was recognized as a clinical entity ...
  8. Hypochondroplasia (Nemours Foundation)  
    ... Epiphyseal Dysplasia Primordial Dwarfism Pseudoachondroplasia Spondylo-Epiphyseal Dysplasia Thanatophoric Dysplasia ... Hypochondroplasia Is Inherited The mode of inheritance ...
  9. Kniest Dysplasia (Nemours Foundation)  
    ... Epiphyseal Dysplasia Primordial Dwarfism Pseudoachondroplasia Spondylo-Epiphyseal ... dysplasia, sometimes called Pseudometatropic or Metatropic dysplasia Type II. Kniest dysplasia is a rare form of ...
  10. Diastrophic Dysplasia (Nemours Foundation)  
    ... Epiphyseal Dysplasia Primordial Dwarfism Pseudoachondroplasia Spondylo-Epiphyseal ... in Finland (1 in 33,000) where the carrier rate in the population is 1 – 2% (3). The incidence in non-Finnish populations is ...
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