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Results 1 - 10 of 47 for Malformation syndrome with short stature
  1. Microcephaly-capillary malformation syndrome 
    ... coin.Other signs and symptoms of microcephaly-capillary malformation syndrome include abnormal movements, feeding difficulties, slow growth, and short stature. Most affected individuals have abnormalities of the fingers ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  2. Larsen syndrome 
    ... individuals may also have hearing loss caused by malformations in tiny bones in the ears (ossicles). Short stature is a common feature of Larsen syndrome. In addition, people with the condition may have ...
    https://medlineplus.gov/genetics/condition/larsen-syndrome - Genetics
  3. 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
  4. 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
  5. Noonan syndrome 
    ... It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.People with Noonan syndrome have distinctive facial features such as a deep ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  6. 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
  7. 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
  8. 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
  9. Melnick-Needles syndrome 
    ... general, these disorders involve hearing loss caused by malformations in the ... of short stature, have an abnormal curvature of the spine (scoliosis), ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  10. RAPADILINO syndrome 
    ... the thumbs, which are known as radial ray malformations. The kneecaps ... stature in affected individuals.Some individuals with RAPADILINO syndrome ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
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