Fine-Lubinsky syndrome
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| 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.
Presentation
Symptoms may vary from person to person, but they generally are (but are not limited to):
- 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