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craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

MONDO:0800436

Also known as:CFSMR1cerebrofaciothoracic dysplasiapascual-Castroviejo syndrome type 1

Overview

Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.

GeneticsAutosomal recessive · TMCO1 (chr 1)

OnsetANTENATAL

ResearchLimited published research (2 articles)

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: Low muscle tone (hypotonia), Short nose, Hypertelorism, and Pes planus and others; and very common findings: Sprengel anomaly, Hyporeflexia, Pectus excavatum, and Macrocephaly and others. 80 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	8	Cleft palate, Microcephaly, Hypoplasia of the maxilla

Genetic Landscape

TMCO1 function has not been fully characterized.

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 is associated with mutations in the TMCO1 gene on chromosome 1.

Diagnosis

Genetic testing for TMCO1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 20 always present features, 5 very common features, 13 common features.

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 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1.

3 publications have been identified in PubMed for craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Wang Y (2025). [PMID: 40797481](https://pubmed.ncbi.nlm.nih.gov/40797481/). *Medicine*. [Case Report / Case Series]
Wang J (2025). [PMID: 40867644](https://pubmed.ncbi.nlm.nih.gov/40867644/). *Biomolecules*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:213980

Orphanet

European rare disease database

Orphanet:1394

GARD

Genetic and Rare Diseases Info Center

GARD:1210

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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