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spondylocamptodactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondylocamptodactyly syndrome

MONDO:0010801

Also known as:camptodactyly with cervical platyspondylyspondylo camptodactyly syndromespondylocamptodactyly

Overview

Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Platyspondyly, Sideways curvature of the spine (scoliosis), and Camptodactyly of finger.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Sideways curvature of the spine (scoliosis)
Arms and legs

Prognosis

Phenotype severity distribution: 3 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600000

Orphanet

European rare disease database

Orphanet:3180

GARD

Genetic and Rare Diseases Info Center

GARD:4972

Questions for Your Care Team

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spondylocamptodactyly syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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