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short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (SRMMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

MONDO:0014948

Also known as:SRMMDshort stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD

Overview

GeneticsAutosomal dominant · ARCN1 (chr 11)

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: Short stature, Intrauterine growth retardation, and Micrognathia; and common findings: Small scrotum, Rhizomelia, Micropenis, and Microcephaly and others. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Gait ataxia, Ataxia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ARCN1 encodes archain 1 coat protein complex I subunit delta (511 aa). Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Highest expression in Cells Cultured fibroblasts (201.3 TPM) and Artery Aorta (132.2 TPM).

Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay is associated with mutations in the ARCN1 gene on chromosome 11.

ARCN1 is classified as a druggable target with score 2.5.

Diagnosis

Genetic testing for ARCN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 8 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 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.

2 publications have been identified in PubMed for short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Amin S (2025). [PMID: 40552310](https://pubmed.ncbi.nlm.nih.gov/40552310/). *Front Cell Dev Biol*. [Review / Meta-Analysis]
Chang G (2024). [PMID: 39731039](https://pubmed.ncbi.nlm.nih.gov/39731039/). *BMC Pediatr*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617164

Orphanet

European rare disease database

Orphanet:659702

Questions for Your Care Team

→Should I pursue genetic testing for ARCN1, and what would the results mean for my family?
→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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short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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