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Results 81 - 90 of 272 for Abnormality of the head
  1. Jackson-Weiss syndrome 
    ... syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.Many of the characteristic facial features ...
    https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome - Genetics
  2. Dihydropyrimidinase deficiency 
    ... be diagnosed only by laboratory testing.The neurological abnormalities that ... head size (microcephaly) and autistic behaviors that affect communication ...
    https://medlineplus.gov/.../condition/dihydropyrimidinase-deficiency - Genetics
  3. MIR17HG gene 
    ... type 2. This developmental disorder is characterized by abnormalities of the fingers and toes, particularly shortening of the second and fifth fingers (brachymesophalangy). Other common features include an unusually small head size (microcephaly) and learning disabilities. The mutations involved ...
    https://medlineplus.gov/genetics/gene/mir17hg - Genetics
  4. Chromosome 13 
    ... microdeletions. Feingold syndrome type 2 is characterized by abnormalities of the fingers and toes, particularly shortening of the second and fifth fingers (brachymesophalangy). Other common features include an unusually small head size (microcephaly) and learning disabilities. 13q31.3 microdeletions ...
    https://medlineplus.gov/genetics/chromosome/13 - Genetics
  5. Kuskokwim syndrome 
    ... side (scoliosis), wedge-shaped spinal bones, or an abnormality of the collarbones (clavicles) described as clubbing. Affected individuals are typically shorter than their peers and they may have an abnormally large head (macrocephaly). Kuskokwim syndrome is extremely rare. It affects ...
    https://medlineplus.gov/genetics/condition/kuskokwim-syndrome - Genetics
  6. Cornelia de Lange syndrome 
    ... delayed closure of the "soft spot" on the head (the anterior fontanelle) in infancy, widely spaced eyes, and dental abnormalities. Like affected individuals with NIPBL gene variants, those ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  7. Moebius syndrome 
    ... occur in many children with Moebius syndrome. Dental abnormalities, including missing and misaligned teeth, are also common.Moebius syndrome also affects muscles that control back-and-forth eye movement. Affected individuals must move their head from side to side to read or follow ...
    https://medlineplus.gov/genetics/condition/moebius-syndrome - Genetics
  8. Emanuel syndrome 
    ... features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features, and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin ...
    https://medlineplus.gov/genetics/condition/emanuel-syndrome - Genetics
  9. Mucopolysaccharidosis type I 
    ... Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as " ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  10. Coffin-Lowry syndrome 
    ... this condition include short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal abnormalities. The incidence of this condition is uncertain, but ...
    https://medlineplus.gov/genetics/condition/coffin-lowry-syndrome - Genetics
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