Fine–Lubinsky syndrome explained

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] __TOC__

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]

Notes and References

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