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Results 11 - 20 of 71 for Multiple skeletal anomalies
  1. 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
  2. Multiple sulfatase deficiency 
    ... the neonatal type, but they often have ichthyosis, skeletal abnormalities, and coarse facial features.The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and symptoms of the juvenile ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  3. CHST3-related skeletal dysplasia 
    ... Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the umbrella term CHST3-related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene. The ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  4. X-linked spondyloepiphyseal dysplasia tarda 
    ... are disproportionately long compared to their height.Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper ...
    https://medlineplus.gov/...linked-spondyloepiphyseal-dysplasia-tarda - Genetics
  5. 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
  6. 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
  7. CHOPS syndrome 
    CHOPS syndrome is a disorder ... of skills such as sitting and walking. Characteristic facial features include ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
  8. 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
  9. 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
  10. 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
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