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Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.
Features include: Facial telangiectasia, Basal cell carcinoma, Abnormal eyelash morphology, and Abnormal eyebrow morphology.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 1 | Facial telangiectasia |
Head and neck |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Rombo syndrome.
2 publications have been identified in PubMed for Rombo syndrome. Research spans Case Report / Case Series (100%).
Ramesh G (2025). [PMID: 40303544](https://pubmed.ncbi.nlm.nih.gov/40303544/). *Cureus*. [Case Report / Case Series]
Varala S (2025). [PMID: 40051258](https://pubmed.ncbi.nlm.nih.gov/40051258/). *Pediatr Dermatol*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:10 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Rombo syndrome
1
Facial telangiectasia |