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Results 61 - 70 of 272 for Abnormality of the head
  1. FGFR3 gene 
    ... of the skull (craniosynostosis), leading to a misshapen head and distinctive facial features. It also causes a skin abnormality called acanthosis nigricans that is characterized by thick, ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  2. Alpha thalassemia X-linked intellectual disability syndrome 
    ... linked intellectual disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  3. Kaufman oculocerebrofacial syndrome 
    ... with Kaufman oculocerebrofacial syndrome have an unusually small head size (microcephaly), and some have structural abnormalities of the brain. Affected individuals have weak muscle ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  4. Multiple pterygium syndrome 
    ... brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  5. ASXL1 gene 
    ... Bohring-Opitz syndrome, a condition that causes abnormal head size and shape, distinctive facial features, joint abnormalities, intellectual disability, and other signs and symptoms. Most ...
    https://medlineplus.gov/genetics/gene/asxl1 - Genetics
  6. Beta-ureidopropionase deficiency 
    ... people with this condition have an abnormally small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  7. HDAC8 gene 
    ... delayed closure of the "soft spot" on the head (the anterior fontanelle) in infancy, widely spaced eyes (hypertelorism), and dental abnormalities. Like affected individuals with NIPBL gene variants, those ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  8. Cranioectodermal dysplasia 
    ... even among members of the same family.Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  9. Roberts syndrome 
    ... the brain (encephalocele) at the front of their head. In addition, people with Roberts syndrome may have heart, kidney, and genital abnormalities.Infants with a severe form of Roberts syndrome ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  10. Trisomy 18 
    ... weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
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