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splenogonadal fusion-limb defects-micrognathia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

splenogonadal fusion-limb defects-micrognathia syndrome

MONDO:0008460

Also known as:SGFLD syndromesplenogonadal fusion limb defect syndromesplenogonadal fusion limb defects micrognatia

Overview

Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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: Multiple unerupted teeth, Crowded maxillary incisors, Abnormality of the genitourinary system, and Micrognathia.

Organ System	Phenotype Count	Example Features
Head and neck	1	Crowded maxillary incisors
Kidneys and urinary system

Prognosis

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 splenogonadal fusion-limb defects-micrognathia syndrome.

1 publication has been identified in PubMed for splenogonadal fusion-limb defects-micrognathia syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Shammout M (2025). [PMID: 39944163](https://pubmed.ncbi.nlm.nih.gov/39944163/). *Radiology case reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:183300

Orphanet

European rare disease database

Orphanet:2063

GARD

Genetic and Rare Diseases Info Center

GARD:4963

Questions for Your Care Team

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splenogonadal fusion-limb defects-micrognathia syndrome

Overview

Clinical Presentation

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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