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Results 1 - 10 of 23 for Multiple skeletal anomalies
  1. AMER1 gene 
    ... have excessive bone growth (hyperostosis), which leads to multiple skeletal abnormalities including an unusually large head (macrocephaly) and abnormal ...
    https://medlineplus.gov/genetics/gene/amer1 - Genetics
  2. ACVR1 gene 
    ... that can be more severe and often involve skeletal abnormalities, such as multiple abnormally formed fingers and toes. The variants that ...
    https://medlineplus.gov/genetics/gene/acvr1 - Genetics
  3. SUMF1 gene 
    ... characterized by neurological decline, scaly skin (ichthyosis), and skeletal abnormalities. Most SUMF1 gene mutations that cause multiple sulfatase deficiency change single amino acids in the ...
    https://medlineplus.gov/genetics/gene/sumf1 - Genetics
  4. GNAS gene 
    ... of bony tissue under the skin, and other skeletal abnormalities. When a mutation that causes AHO is inherited from a person's mother, the affected individual will usually have AHO accompanied by a resistance to multiple hormones (a condition called pseudohypoparathyroidism type Ia, or ...
    https://medlineplus.gov/genetics/gene/gnas - Genetics
  5. NOG gene 
    ... BROAD THUMBS AND TOES SYMPHALANGISM, PROXIMAL, 1A; SYM1A MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 ... broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  6. AFF4 gene 
    ... AFF4 gene cause CHOPS syndrome, a disorder involving multiple abnormalities ... and skeletal abnormalities.The AFF4 gene mutations identified in people ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  7. FGFR3 gene 
    ... This Health Condition MedlinePlus Genetics provides ... skeletal abnormalities. Researchers suggest that the FGFR3 gene variants involved ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  8. PTPN11 gene 
    ... can result in the heart defects, growth problems, skeletal abnormalities, and ... with multiple lentigines (formerly called LEOPARD syndrome). This condition is ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  9. COL2A1 gene 
    ... bones cannot develop properly, resulting in the severe skeletal abnormalities seen in infants with platyspondylic dysplasia, Torrance type. ... by disproportionate short stature, brachydactyly, platyspondyly, and other skeletal ... COL2A1 gene variants that cause spondyloperipheral dysplasia ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  10. LRP5 gene 
    ... conditions can cause abnormal bone growth and related skeletal abnormalities. Rarely, affected individuals have hearing loss or circulation ...
    https://medlineplus.gov/genetics/gene/lrp5 - Genetics
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