Fetal Upturned Nose
Anteverted nares with a short nasal tip on profile view is a subtle but important soft marker.
Its significance depends heavily on associated findings, gestational age, and family phenotype.
Short nasal tip with upward rotation of nostrils
Often associated with:
• Short nasal bone
• Flat midface
• Depressed nasal bridge
Etiology
Normal / constitutional
• Common in:
o Certain ethnic groups, Familial facial traits
• If isolated, normal NT, normal anatomy → often benign
Chromosomal abnormalities
• Down syndrome
o Flat face, small nose, upturned nares
o Often with:
Absent/hypoplastic nasal bone
Increased NT
Cardiac defects
Others:
• Trisomy 18, Trisomy 13, Triploidy
Monogenic syndromes
Craniofacial syndromes
• Apert syndrome
o Midface hypoplasia → relative upturned nose
• Crouzon syndrome
• Pfeiffer syndrome
Skeletal dysplasias
• Short face + depressed bridge → apparent upturn
• Thanatophoric dysplasia (FGFR3)
Other syndromes
• Smith-Lemli-Opitz syndrome
• Noonan syndrome
o Short nose, anteverted nares
• Cornelia de Lange syndrome
Midface hypoplasia spectrum
• Seen in:
o Skeletal dysplasias
o Craniosynostosis
o Genetic syndromes
• Mechanism: maxillary underdevelopment → nose appears upturned
Environmental / teratogenic (less common)
• Retinoic acid exposure
• Severe growth restriction (facial disproportion)
Practical interpretation
• Isolated upturned nose = weak marker
• Upturned nose + midface hypoplasia = red flag
• Upturned nose + absent nasal bone = strong T21 suspicion
• Upturned nose + syndromic features = think monogenic
Microdeletion / duplication syndromes where upturned nose may occur 22q11.2 deletion syndrome; DiGeorge syndrome, Velocardiofacial syndrome
May show:
• tubular/small/upturned nose
• conotruncal cardiac defects
• thymic hypoplasia
• cleft palate
Prenatally:
• cardiac anomalies dominate
• facial signs alone are usually subtle
1p36 deletion syndrome
Can show:
• midface hypoplasia
• short nose
• anteverted nares
Associated:
• ventriculomegaly
• cardiomyopathy
• growth restriction
Wolf-Hirschhorn syndrome, (4p deletion syndrome)
Usually:
• abnormal profile
• hypertelorism
• micrognathia
• growth restriction
Cri du chat syndrome, 5p deletion syndrome or Lejeune syndrome
Can have:
• broad/upturned nose
• facial dysmorphism
• severe neurodevelopmental impact
Duplication syndromes
• 7q duplication
• 9p duplication
• 17p duplication
• subtelomeric CNVs
Important practical point
Facial soft markers alone are poor predictors of CNVs
An isolated upturned nose has:
• low specificity
• high normal variation
The predictive value for microdel/dup becomes meaningful when associated with:
• CHD
• ventriculomegaly
• clefting
• skeletal anomalies
• FGR
• abnormal hands/feet
• polyhydramnios
• increased NT/NF