Pallister-Hall Syndrome (PHS)
Pallister-Hall Syndrome (PHS)
| Contact: | Pallister-Hall Syndrome (PHS) Support Hub |
| Tel: | George W. Helon - 0419 768 792 |
| Email: | ghelon@yahoo.com.au |
| More info: |
PO Box 88 Toowoomba QLD 4350 |
| Related documents: | Pallister-Hall Syndrome Information Sheet |
| About: |
Pallister-Hall Syndrome (PHS) is an extremely rare genetic condition that may be congenital (present at birth). Symptoms of the condition vary greatly between individuals. Features of the condition include extra fingers and/or toes; imperforate anus (no external opening from the lower intestine); abnormal flow of cerebrospinal fluid in the brain causing hydrocephalus (increased pressure on the brain); characteristic features of the head and facial area; benign (non-cancerous) tumours of the hypothalamus portion of the brain resulting in decreased pituitary function. Infants with PHS must be treated immediately with hormone replacement therapy. Inheritance of PHS follows an autosomal dominant pattern of inheritance. PHS is caused by a faulty copy of the GL13 gene, located on the short ‘p’ arm of chromosome 7, at 7p13. Quite contrary to much earlier medical literature, Pallister-Hall Syndrome (PHS) is no longer considered an early lethality disorder; in fact, patients – given the correct medical intervention as required – will more than likely live a long and fruitful life. |
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