Fine-Lubinsky syndrome

Last updated
Fine-Lubinsky syndrome
Specialty Medical genetics
Symptoms facial dysmorphy, global developmental and speech delay, and ocular, behavioural and hearing problems.
Usual onsetBirth
DurationLife-long
CausesAutosomal recessive genetic mutation
Preventionnone
Frequencyextremely rare

Fine-Lubinsky syndrome is a rare genetic disorder which is characterized by ocular and hearing problems, speech and developmental delay, short stature, intellectual disabilities and facial dysmorphisms. [1]

Contents

Presentation

Symptoms may vary from person to person, but they generally are (but are not limited to): [2] [3] [4]

Etiology

Although most cases of Fine-Lubinsky syndrome are sporadic, a case report of two siblings with this syndrome was published, suggesting that it's caused by autosomal recessive mutations in the MAF gene [5]

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References

  1. "Orphanet: Fine Lubinsky syndrome".
  2. "Fine-Lubinsky syndrome".
  3. https://rarediseases.oscar.ncsu.edu/disease/fine-lubinsky-syndrome/about/
  4. "Orphanet: Aymé Gripp syndrome".
  5. "Fine-Lubinsky syndrome - About the Disease - Genetic and Rare Diseases Information Center".