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Anophthalmia plus syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Fryns microphthalmia syndrome
    • Microphthalmia with facial clefting
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • ICD-11: LD21.0
  • OMIM: 600776
  • UMLS: C1833339
  • MeSH: C537767
  • GARD: 719
  • MedDRA: -

Detailed information


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