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Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Features include: Bilateral cleft lip, Bilateral cleft palate, Anophthalmia, and Neural tube defect and 4 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Bilateral cleft lip, Bilateral cleft palate, Tessier cleft |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for anophthalmia plus syndrome.
2 publications have been identified in PubMed for anophthalmia plus syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Maritsa VA (2024). [PMID: 39347350](https://pubmed.ncbi.nlm.nih.gov/39347350/). *Cureus*. [Case Report / Case Series]
Dubucs C (2024). [PMID: 39296666](https://pubmed.ncbi.nlm.nih.gov/39296666/). *Front Pediatr*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:31 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning anophthalmia plus syndrome
Updated Jul 29, 2026
Recent research published in PubMed explores the relationship between Graves' orbitopathy and anophthalmia, shedding light on potential underlying mechanisms. This study may provide insights for future therapeutic strategies in managing these conditions.
A study analyzed 111 patients with bilateral anterior segment dysgenesis, aniridia, microphthalmia, and anophthalmia, providing insights into the molecular and clinical characteristics of these conditions. The findings may enhance understanding and management of these rare eye disorders.