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Results 1 - 8 of 8 for Progressive macrocephaly
  1. Megalencephalic leukoencephalopathy with subcortical cysts 
    Megalencephalic leukoencephalopathy ... the brain's white matter. White matter consists of nerve fibers covered by a fatty ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  2. Camurati-Engelmann disease 
    ... which can lead to an abnormally large head (macrocephaly) and lower jaw (mandible), a prominent forehead (frontal ... dysplasia Diaphyseal hyperostosis Diaphyseal osteosclerosis Engelmann disease PDD Progressive diaphyseal dysplasia Genetic Testing Registry: Diaphyseal dysplasia Camurati- ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  3. Mucopolysaccharidosis type VII 
    ... features of MPS VII include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), ... loss. Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
  4. 2-hydroxyglutaric aciduria 
    ... seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  5. Mucopolysaccharidosis type VI 
    ... causes various skeletal abnormalities, including a large head (macrocephaly) with a buildup of fluid in the brain ( ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
  6. Canavan disease 
    ... muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and ... R. Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol. 2003 Nov;18( ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  7. Aspartylglucosaminuria 
    ... growth spurt resulting in a large head size (macrocephaly).Intellectual disability and movement problems worsen in adolescence. ...
    https://medlineplus.gov/genetics/condition/aspartylglucosaminuria - Genetics
  8. Mucopolysaccharidosis type III 
    ... facial features, a prominent forehead, a large head (macrocephaly), and thick hair and eyebrows. Some people with ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics