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Anophthalmia plus syndrome

Orpha number ORPHA1104
Synonym(s) Fryns microphthalmia syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Antenatal
  • Q02
  • C1833339
  • C537767
MedDRA -


Anophthalmia plus syndrome is characterized by the association of anophthalmia or an extreme microphthalmia with other severe malformations of the face and neural tube. It has been described in three cases. The first two cases involved a fetus and child born to nonconsanguineous healthy parents, whose first child was normal. At 17 weeks' gestation the female fetus displayed bilateral anophthalmia, bilateral cleft lip/cleft palate, macrotia with bilateral lateral facial cleft, a large open sacral neural tube defect, and uterus unicornis. The other child was born with bilateral anophthalmia and an abnormal left ear with absent lobule as the sole additional anomaly. A third case was described from another family and presented with bilateral extreme microphthalmia and bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, bifid uvula, frontal encephalocele, and premature craniosynostosis. An autosomal recessive inheritance has been suggested for this 'anophthalmia-plus' syndrome, although environmental factors cannot be excluded.

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