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thalidomide embryopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thalidomide embryopathy

MONDO:0018034

Also known as:fetal thalidomide syndromefoetal thalidomide syndromethalidomide embryopathy syndrome

Overview

A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.

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 common findings: Split hand, Preaxial hand polydactyly, Triphalangeal thumb, and Abnormal fibula morphology and others; and sometimes findings: Abnormality of the outer ear, Hearing loss (hearing impairment), Insulin resistance, and Chronic rhinitis and others.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Split hand, Preaxial hand polydactyly, Upper limb phocomelia

Prognosis

Phenotype severity distribution: 12 common features.

Estimated prevalence: 1-9 in 1,000,000 (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 thalidomide embryopathy.

12 publications have been identified in PubMed for thalidomide embryopathy. Research spans Review / Meta-Analysis (42%), Case Report / Case Series (25%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Research summaries	5	42%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3312

GARD

Genetic and Rare Diseases Info Center

GARD:2313

Questions for Your Care Team

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thalidomide embryopathy

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

thalidomide embryopathy

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications