Fine–Lubinsky syndrome

Fine–Lubinsky syndrome
SpecialtyMedical genetics
Symptomsfacial 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]

Presentation

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

  • Intellectual disabilities of varying degree
  • Congenital hearing loss
  • Congenital cataracts and/or glaucoma
  • Brachycephaly
  • Brain abnormalities (often leading to behavioral problems)
  • Finger abnormalities
  • Cleft palate
  • Flat face
  • Ptosis
  • Long philtrum
  • Small mouth
  • Short nose
  • Microstomia
  • Scrotum hypoplasia

Etiology

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

Diagnosis

Treatment

References

  1. ^ "Orphanet: Fine Lubinsky syndrome".
  2. ^ "Fine-Lubinsky syndrome". 16 June 2022.
  3. ^ "Fine-Lubinsky syndrome". Rare Disease InfoHub.
  4. ^ "Orphanet: Aymé Gripp syndrome".
  5. ^ "Fine-Lubinsky syndrome - About the Disease - Genetic and Rare Diseases Information Center".