Baraitser Brett Piesowicz syndrome
Synonyms
4
Overview
Baraitser Brett Piesowicz syndrome is a very rare syndrome characterized by a small head and calcification in the brain.
Symptoms
The list of signs and symptoms mentioned in various sources for Baraitser Brett Piesowicz syndrome includes the 6 symptoms listed below:
- Small head
- Seizures
- Intracranial calcifications
- Increased reflexes
- Increased muscle tone
- Movement problems
Causes
Baraitser Brett Piesowicz syndrome is caused by homozygous or compound heterozygous mutation in the gene encoding occludin (OCLN) on chromosome 5q13.
Diagnosis
No specific diagnostic test for this condition has yet been described and diagnosis remains essentially clinical.
- Presence of congenital microcephaly with intracranial calcification
- Absence of intrauterine infection due to TORCH group
- Negative results from serum, urine and CSF studies for similar illnesses
Prognosis
Babies affected by Baraitser Brett Piesowicz syndrome are born with a neurological disorder, a small than average shaped head, and areas with a high amount of calcium in their skull. The small skull size leads to brain disorders because there is not enough space for the brain to develop properly. This also leads to seizures and other problems, at least through their first year of life.