Rare diseases · Sign or symptom
Increased nuchal translucency
HP:0010880
What it means
Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency.
Rare diseases that can present with this21
Very common80–99%
3Common30–79%
9- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Deletion 5q35 syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Trisomy 18 syndrome
- Trisomy 1q syndrome
Sometimes5–29%
9- 19p13.13microdeletion syndrome
- Autosomal recessive omodysplasia
- Cornelia de Lange syndrome
- Fetal parvovirus syndrome
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Mosaic trisomy 1 syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Williams syndrome
and 1 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.