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Results 1 - 10 of 109 for Skeletal dysplasia
  1. Platyspondylic lethal skeletal dysplasia, Torrance type 
    Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped ...
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics
  2. CHST3-related skeletal dysplasia 
    CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  3. Greenberg dysplasia 
    ... is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common ... condition. Chondrodystrophy, hydropic and prenatally lethal type Greenberg skeletal dysplasia HEM dysplasia HEM skeletal dysplasia Hydrops - ectopic calcification - ...
    https://medlineplus.gov/genetics/condition/greenberg-dysplasia - Genetics
  4. Thanatophoric dysplasia 
    ... fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat. 2012 Jan;33(1):29-41. ... factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  5. CHOPS syndrome 
    ... heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia Genetic Testing Registry: Cognitive impairment - coarse facies - heart ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
  6. Mainzer-Saldino syndrome 
    ... Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia Saldino-Mainzer dysplasia Saldino-Mainzer syndrome Short-rib ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  7. Frontometaphyseal dysplasia 
    ... affected individuals have hearing loss.In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the ...
    https://medlineplus.gov/.../condition/frontometaphyseal-dysplasia - Genetics
  8. Otopalatodigital syndrome type 2 
    ... 2 is a disorder primarily involving abnormalities in skeletal development. It ... dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. In ...
    https://medlineplus.gov/.../otopalatodigital-syndrome-type-2 - Genetics
  9. Melnick-Needles syndrome 
    ... Needles syndrome is a disorder involving abnormalities in skeletal development ... dysplasia, and terminal osseous dysplasia. In general, these disorders ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  10. COL2A1 gene 
    ... have been identified in people with platyspondylic lethal skeletal dysplasia, Torrance type. This severe disorder of bone growth ... back (lordosis).The variants associated with platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
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