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Results 91 - 100 of 129 for Skeletal dysplasia
  1. TRAPPC2 gene 
    ... the signs and symptoms of X-linked spondyloepiphyseal dysplasia tarda, although it is unclear why the skeletal problems do not appear until later in childhood. ...
    https://medlineplus.gov/genetics/gene/trappc2 - Genetics
  2. SLC26A2 gene 
    ... A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar; ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  3. 3MC syndrome 
    ... syndrome Malpuech syndrome Michels syndrome Mingarelli syndrome Oculo-skeletal-abdominal syndrome Oculopalatoskeletal syndrome OSA syndrome Ptosis of eyelids with diastasis recti and hip dysplasia Ptosis-strabismus-rectus abdominis diastasis Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  4. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 
    ... restriction) and are small in infancy. They have skeletal abnormalities that often ... dysplasia and epiphyseal dysplasia; these are malformations of the ...
    https://medlineplus.gov/...ypoplasia-congenita-and-genital-anomalies - Genetics
  5. ANKH gene 
    The ANKH gene provides instructions for making a protein that is involved in skeletal development. The ANKH protein plays a role in the development and function ...
    https://medlineplus.gov/genetics/gene/ankh - Genetics
  6. Aging changes in organs, tissue and cells 
    ... have limited or no ability to regenerate - nerves, skeletal muscle, ... Dysplasia: The size, shape, or organization of mature cells ...
    https://medlineplus.gov/ency/article/004012.htm - Medical Encyclopedia
  7. FBN1 gene 
    ... connective tissue, which causes the eye, heart, and skeletal abnormalities associated with ... About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  8. Hypochondrogenesis 
    ... newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development. Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in 40,000 to ...
    https://medlineplus.gov/genetics/condition/hypochondrogenesis - Genetics
  9. Simpson-Golabi-Behmel syndrome 
    ... be malformed and they can have extra nipples. Skeletal abnormalities, including extra ... SGBS1 Simpson dysplasia syndrome Simpson syndrome Simpson-Golabi-Behmel syndrome type ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  10. Osteoglophonic dysplasia 
    ... In particular, they play a major role in skeletal development.The FGFR1 protein spans the cell membrane, ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
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