Pallister-Hall Syndrome

Overview

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Pallister-Hall Syndrome

Topic type

Condition

Category

Orthopaedics

MeSH classification

C04.445.622|C04.588.614.250.195.885.500.299|C05.660.585.600.374|C10.228.140.211.885.500.299|C10.228.140.617.477.299|C10.551.240.250.700.500.249|C16.131.077.690|C16.131.621.585.600.374

Preparing for an appointment about Pallister-Hall Syndrome

If you are speaking with a healthcare professional about Pallister-Hall Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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