Pallister-Hall syndrome

Also known as: Ano-cerebro-digital syndrome; CAVE Lethality Multiplex syndrome; Cerebro-acro-visceral Early Lethality Multiplex syndrome; Hypothalamic Hamartoblastoma syndrome

Background

Pallister-Hall syndrome (PHS) is a rare genetic condition. The main features include:

• hypothalamic hamartoma – a benign (non-cancerous) brain tumour that arises from the hypothalamus (a region of the brain)
• pituitary gland abnormalities – the pituitary gland produces a number of hormones (chemical messages)
• polydactyly (extra digits) and syndactyly (webbing between digits)
• small/unusual growing nails
• bifid epiglottis – a split in a leaflet of tissue at the back of the throat that prevents food going down the windpipe
• imperforate anus – where the back passage is not open.

PHS is caused by a fault (mutation) in the GLI3 gene on chromosome 7. Diagnosis is based on the key symptoms being present and a test of the GLI3 gene may be used to confirm this. Management includes assessment by a paediatric endocrinologist (who specialises children with hormone problems), as hormone replacement may be needed. Surgery may be required to deal with polydactyly, syndactyly, imperforate anus and hypothalamic hamartoma. PHS is mostly sporadic (with no family history), but occasionally it is inherited from one parent. Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved January 2012 by Dr Adam Shaw, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for Pallister-Hall syndrome in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.