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Results 1 - 10 of 129 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. Otopalatodigital syndrome type 1 
    ... 1 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-1 - Genetics
  10. 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
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