Human Gene Set: HP_THICKENED_NUCHAL_SKIN_FOLD


Standard name HP_THICKENED_NUCHAL_SKIN_FOLD
Systematic name M34743
Brief description Thickened nuchal skin fold
Full description or abstract A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:30431620]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000474
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External links https://hpo.jax.org/app/browse/term/HP:0000474
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2026.1.Hs: Updated to HPO Release 2026-01-08.


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