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Results 1 - 10 of 15 for Intellectual developmental disorder with hypertelorism distinctive facies
  1. KBG syndrome 
    ... condition include unusual facial features, skeletal abnormalities, and ... spaced eyes (hypertelorism), wide eyebrows that may grow together in the ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  2. Kleefstra syndrome 
    ... features of Kleefstra syndrome include developmental delay and intellectual ... middle of the face (midface hypoplasia), nostrils that open to the front ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  3. Cri-du-chat syndrome 
    ... of a cat. The disorder is characterized by intellectual disability and ... small jaw, and a rounded face. Some children with cri-du-chat syndrome are ...
    https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome - Genetics
  4. Snijders Blok-Campeau syndrome 
    ... history of the disorder in their family. IDDMSF Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies SNIBCPS National Organization for Rare Disorders (NORD) SNIJDERS ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  5. Zellweger spectrum disorder 
    ... the eyes (nystagmus). Severe Zellweger spectrum disorder involves distinctive facial features, including a flattened face, broad nasal bridge, high forehead, and widely spaced eyes (hypertelorism). Children with severe Zellweger spectrum disorder typically do ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  6. Rhizomelic chondrodysplasia punctata 
    ... contractures) that make the joints stiff and painful.Distinctive facial ... of the face (midface hypoplasia), a small nose with upturned nostrils, ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  7. Baraitser-Winter syndrome 
    ... of many parts of the body, particularly the face and the brain.An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  8. MN1 C-terminal truncation syndrome 
    ... when eating.Individuals with MCTT syndrome often have distinctive facial ... (hypertelorism ); shallow and bulging eyes (exophthalmos); a short, upturned ...
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  9. Smith-Kingsmore syndrome 
    ... have unusual facial features, such as a triangular face with a pointed chin, a ... Smith-Kingsmore syndrome is a rare ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  10. ALX4 gene 
    ... it is unclear whether these conditions are distinct disorders or part of a disease ... delay, distinctive facial features, vision problems, and defects in the ...
    https://medlineplus.gov/genetics/gene/alx4 - Genetics
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