GTR Home > Conditions/Phenotypes > Neural tube defect

Summary

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO) is a bony defect of the spine covered by normal skin. It is mild form of spina bifida and is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634). [from OMIM]

Associated genes

  • Also known as: GDCF-2, HC11, HSMCR30, MCAF, MCP-1, MCP1, SCYA2, SMC-CF, CCL2
    Summary: chemokine (C-C motif) ligand 2

  • Also known as: FY, NTD, FUZ
    Summary: fuzzy planar cell polarity protein

  • Also known as: RP11-459F1.1, TFT, T
    Summary: T, brachyury homolog (mouse)

  • Also known as: KITENIN, LPP2, STB2, STBM2, VANGL1
    Summary: VANGL planar cell polarity protein 1

  • Also known as: LPP1, LTAP, STB1, STBM, STBM1, VANGL2
    Summary: VANGL planar cell polarity protein 2

Clinical features

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  • Hydrocephalus
  • Anencephaly
  • Urinary incontinence
  • Multiple lipomas
  • Myelomeningocele
  • Spina bifida occulta
  • Asymmetry of spinal facet joints
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