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pseudoaminopterin syndrome (ASSA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudoaminopterin syndrome

MONDO:0010865

Also known as:ASSAaminopterin syndrome-like sine aminopterinaminopterin syndrome sine aminopterin

Overview

Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.

GeneticsAutosomal recessive

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: Decreased body weight, Narrow forehead, Megalencephaly, and Rudimentary postaxial polydactyly of hands and 30 more.

Organ System	Phenotype Count	Example Features
Head and neck	5	High palate, Macrocephaly, Microcephaly
Arms and legs

Prognosis

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

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600325

Orphanet

European rare disease database

Orphanet:221120

GARD

Genetic and Rare Diseases Info Center

GARD:4544

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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pseudoaminopterin syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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