raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:823

Spina bifida and other spinal dysraphisms

Synonyms: Isolated spina bifida · Isolated spinal dysraphism

Type
Category
Group
Group of disorders
Inheritance
Multigenic/multifactorial, Not applicable
Age of onset
Infancy, Neonatal
Status
active

A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development that is usually not associated with other major congenital malformations but may include ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enSpina bifida and other spinal dysraphismsIsolated spina bifida · Isolated spinal dysraphism
frSpina bifida et autres dysraphismes spinauxDysraphisme spinal isolé · Spina bifida isolé
deSpina bifida und weitere spinale Dysraphien
esEspina bífida aislada
itSpina bifida isolata
nlGeïsoleerde spina bifida
ptEspinha bífida
plIzolowany rozszczep kręgosłupa= en
csIzolovaná spina bifida= en
ukSpina bifida та інші спинальні дизрафізмиІзольоване розщеплення хребта · Ізольований спінальний диграфізм
zh孤立型脊柱裂
trİzole spina bifida

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM182940BTNTvalidated
OMIM301410BTNTvalidated
OMIM601634BTNTvalidated
ICD-11LA02Especificvalidated
MONDO0019351Evalidated
MONDO19351Evalidated
MeSHD016135Evalidated
UMLSC5680973Evalidated
GARD7673Evalidated
MedDRA10041524Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (3):

Codes that Orphanet moved or referred to this one:

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

22 records
TypeClassValueAreaQualificationValidationSource
Prevalence at birth1-5 / 10 00018.6 / 100 000EuropeValue and classValidatedEUROCAT European surveillance of congenital anomalies 2007-2011[OTHER]
Point prevalence1-5 / 10 000—EuropeClass onlyValidatedEUROCAT European surveillance of congenital anomalies 2007-2011[OTHER]
Point prevalence1-5 / 10 00050 / 100 000FranceValue and classValidated[EXPERT]
Prevalence at birth1-5 / 10 00024.8 / 100 000United StatesValue and classValidated22140002[PMID]_Center for Diseases Control and Prevention 19129744[OTHER]_ ORPHANET
Prevalence at birth1-9 / 100 0009.8 / 100 000AustriaValue and classValidatedEUROCAT European surveillance of congenital anomalies 2009[OTHER]
Prevalence at birth1-5 / 10 00017.5 / 100 000BelgiumValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00011.4 / 100 000CroatiaValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00021.3 / 100 000DenmarkValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00019.6 / 100 000FranceValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00017.8 / 100 000GermanyValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00014.4 / 100 000HungaryValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00050.6 / 100 000IrelandValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00012.7 / 100 000ItalyValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00024.9 / 100 000MaltaValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00017.5 / 100 000NetherlandsValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00014.7 / 100 000NorwayValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00024.4 / 100 000PolandValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00018.9 / 100 000PortugalValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-9 / 100 0005 / 100 000SpainValue and classValidatedEUROCAT European surveillance of congenital anomalies 2010[OTHER]
Prevalence at birth1-5 / 10 00012.6 / 100 000SwitzerlandValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00013.1 / 100 000United KingdomValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]
Prevalence at birth1-5 / 10 00041.3 / 100 000UkraineValue and classValidatedEUROCAT European surveillance of congenital anomalies 2011[OTHER]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card