Rare diseases · Sign or symptom
Spina bifida occulta
HP:0003298
What it means
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
May be asymptomatic.
Rare diseases that can present with this38
Common30–79%
12- 3MC syndrome
- Acrocraniofacial dysostosis
- Acrodysplasia scoliosis
- Alagille syndrome
- Camptodactyly syndrome, Guadalajara type 3
- Cleidocranial dysplasia
- Isolated Klippel-Feil syndrome
- Neuronal intranuclear inclusion disease
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- Rhizomelic chondrodysplasia punctata
- Spinocerebellar ataxia-dysmorphism syndrome
- White forelock with malformations
Sometimes5–29%
23- 8q24.3microdeletion syndrome
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Palagonia type
- Autosomal dominant spondylocostal dysostosis
- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive spondylocostal dysostosis
- Becker nevus syndrome
- Craniodigital-intellectual disability syndrome
and 15 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hidden spina bifida
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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.