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Results 1 - 9 of 9 for Malformation syndrome with short stature
  1. RECQL4 gene 
    ... gene have been identified in people with RAPADILINO syndrome. This condition has many features, including radial ray malformations, malformed or missing kneecaps, diarrhea, and short stature. The condition was first identified in Finland, and ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  2. RIT1 gene 
    ... RIT1 gene have been found to cause Noonan syndrome. This condition is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with ...
    https://medlineplus.gov/genetics/gene/rit1 - Genetics
  3. SOS1 gene 
    ... have been identified in the SOS1 gene. Noonan syndrome is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. The SOS1 ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  4. RAF1 gene 
    ... have been identified in the RAF1 gene. Noonan syndrome is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. The RAF1 ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  5. PTPN11 gene 
    ... become cancerous. More than 90 mutations causing Noonan syndrome have been identified in the PTPN11 gene. This condition is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. Most of ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  6. TXNL4A gene 
    ... characteristic facial features, hearing loss, heart abnormalities, and short stature. Most people with Burn-McKeown syndrome have a different genetic change in each of ...
    https://medlineplus.gov/genetics/gene/txnl4a - Genetics
  7. FLNA gene 
    ... have been identified in people with Melnick-Needles syndrome. This condition is typically the most severe of the otopalatodigital spectrum disorders (described above). It involves abnormalities in skeletal development, causing short stature, abnormal curvature of the spine, partial dislocation of ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  8. TRPS1 gene 
    ... TRPS1 gene have been found to cause trichorhinophalangeal syndrome type I (TRPS I). TRPS I is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, ...
    https://medlineplus.gov/genetics/gene/trps1 - Genetics
  9. FGFR1 gene 
    ... gene have been identified in people with Hartsfield syndrome. People with this rare condition have an abnormality in their brain development called holoprosencephaly. They also have a malformation of the hands and feet called split hand/ ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics