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Results 1 - 7 of 7 for Short stature with microcephaly distinctive facies
  1. Renpenning syndrome 
    ... developmental delay, moderate to severe intellectual disability, and distinctive ... a long, narrow face; outside corners of the eyes that point upward ( ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  2. HDAC8 gene 
    ... symptoms in affected males include severe intellectual disability, short stature, obesity, breast enlargement (gynecomastia), reduced production of sex hormones (hypogonadism), an unusually small head (microcephaly), small hands, and distinctive facial features. Affected females tend to have less ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  3. White-Sutton syndrome 
    ... face, which can include an unusually small head (microcephaly); a wide, short ... and short stature. Some individuals with White-Sutton syndrome are born ...
    https://medlineplus.gov/genetics/condition/white-sutton-syndrome - Genetics
  4. Mowat-Wilson syndrome 
    ... in the middle. These facial features become more distinctive with age, and ... structural brain abnormalities, and intellectual disability ranging from ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  5. Alpha thalassemia X-linked intellectual disability syndrome 
    ... disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  6. About Microcephalic Osteodysplastic Primordial Dwarfism Type II (Nemours Foundation)  
    Dwarfism/Specifics ... Dwarfism ... Nemours Foundation ... A class of disorders where growth delay occurs at the earliest stages of development.
    https://www.nemours.org/.../about-primordial-dwarfism.html - External Health Links
  7. Cornelia de Lange syndrome 
    ... slow growth before and after birth leading to short stature; intellectual ... distinctive facial features, including arched eyebrows that often meet ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics