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Fine-Lubinsky syndrome

Orpha number ORPHA1272
Synonym(s) Brachycephaly - deafness - cataract - intellectual disability
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C0795941
MeSH
  • C537933
MedDRA -

Summary

Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern.


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