Medicine:Fine-Lubinsky syndrome
From HandWiki
| Fine-Lubinsky syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | facial dysmorphy, global developmental and speech delay, and ocular, behavioural and hearing problems. |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Autosomal recessive genetic mutation |
| Prevention | none |
| Frequency | extremely 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's caused by autosomal recessive mutations in the MAF gene[5]
References
- ↑ "Orphanet: Fine Lubinsky syndrome". https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=3187&Disease(s)/group%20of%20diseases=Fine-Lubinsky-syndrome&title=Fine-Lubinsky-syndrome&search=Disease_Search_Simple.
- ↑ "Fine-Lubinsky syndrome". 16 June 2022. https://rarediseases.org/gard-rare-disease/fine-lubinsky-syndrome/.
- ↑ https://rarediseases.oscar.ncsu.edu/disease/fine-lubinsky-syndrome/about/
- ↑ "Orphanet: Aymé Gripp syndrome". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1272.
- ↑ "Fine-Lubinsky syndrome - About the Disease - Genetic and Rare Diseases Information Center". https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome.
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