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skeletal dysplasia-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

skeletal dysplasia-intellectual disability syndrome

MONDO:0010668

Also known as:Christian syndromemental retardation-skeletal dysplasiaMRSD

Overview

Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.

GeneticsX-linked

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 always present findings: Abducens palsy; and very common findings: Brachydactyly and Abnormal sacrum morphology. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Skeletal dysplasia, Sideways curvature of the spine (scoliosis), Fused cervical vertebrae

Diagnosis

Biomarker and diagnostic research for skeletal dysplasia-intellectual disability syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 1 common feature.

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for skeletal dysplasia-intellectual disability syndrome.

202 publications have been identified in PubMed for skeletal dysplasia-intellectual disability syndrome. Kisho has analyzed 41 by research type. Research spans Review / Meta-Analysis (34%), Basic Science / Preclinical (27%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Research summaries	14	34%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:309620

Orphanet

European rare disease database

Orphanet:1436

GARD

Genetic and Rare Diseases Info Center

GARD:3520

Questions for Your Care Team

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Kisho

skeletal dysplasia-intellectual disability syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

skeletal dysplasia-intellectual disability syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications