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Results 1 - 8 of 8 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 (facio) ...
    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. 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
  7. Smith-Kingsmore syndrome 
    ... facial dysmorphism Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MINDS syndrome SKS Genetic Testing Registry: Macrocephaly- ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  8. WDR19 gene 
    ... other tissues, leading to the features of cranioectodermal dysplasia. Some researchers ... About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics