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Results 1 - 10 of 19 for Thoracic dysplasia
  1. Cerebro-facio-thoracic dysplasia 
    Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face ( ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  2. Asphyxiating thoracic dystrophy 
    ... symptoms of the condition. Asphyxiating thoracic chondrodystrophy Asphyxiating thoracic dysplasia ATD Chondroectodermal dysplasia-like syndrome Infantile thoracic dystrophy ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  3. Mainzer-Saldino syndrome 
    ... Saldino-Mainzer dysplasia Saldino-Mainzer syndrome Short-rib thoracic dysplasia 9 SRTD9 Genetic Testing Registry: Saldino-Mainzer syndrome ... National Organization for Rare Disorders (NORD) SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 PubMed Beals ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  4. TMCO1 gene 
    ... mutations have been found to cause cerebro-facio-thoracic dysplasia, which is characterized by severe intellectual disability, distinctive ... vertebrae). The gene mutations that cause cerebro-facio-thoracic dysplasia lead to production of abnormally short TMCO1 proteins ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  5. WDR35 gene 
    ... WDR35_HUMAN Tests of WDR35 PubMed SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 WD REPEAT- ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  6. Craniofacial Abnormalities (National Library of Medicine)  
    Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ...
    https://medlineplus.gov/craniofacialabnormalities.html - Health Topics
  7. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  8. Dwarfism (National Library of Medicine)  
    People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often ...
    https://medlineplus.gov/dwarfism.html - Health Topics
  9. Polydactyly 
    Causes may include: Asphyxiating thoracic dystrophy Carpenter syndrome Ellis-van Creveld syndrome (chondroectodermal dysplasia) Familial polydactyly Laurence-Moon-Biedl syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Trisomy 13
    https://medlineplus.gov/ency/article/003176.htm - Medical Encyclopedia
  10. FBN1 gene 
    ... Health Condition MedlinePlus Genetics provides information about Familial thoracic aortic aneurysm and dissection More About This Health Condition MedlinePlus Genetics provides information about Geleophysic dysplasia More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
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