anophthalmia plus syndrome
Findings
No curated finding names anophthalmia plus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010930), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnophthalmiaHPOHP:0000528
- Very frequent (80% to 99% of cases)
- Abnormal nasal morphologyHPOHP:0005105
- Frequent (30% to 79% of cases)
- Choanal atresiaHPOHP:0000453
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Non-midline cleft of the upper lipHPOHP:0100335
- Frequent (30% to 79% of cases)
- Posteriorly rotated ears
Show the remaining 3
- Iris colobomaHPOHP:0000612
- Occasional (5% to 29% of cases)
- Spina bifidaHPOHP:0002414
- Occasional (5% to 29% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: anophthalmia plus syndrome
- Also called
- Fryns microphthalmia syndromemicrophthalmia with facial clefting