Pallister-Hall syndrome

Genetics

• autosomal dominant
• associated with frameshift mutations in gli-3 gene

Clinical manifestations

• hypopituitarism
• postaxial or central polydactyly
• hypothalamic hamartoblastoma
• short limbs
• laryngeal cleft
• renal agenesis
• renal dysplasia
• microglossia
• micrognathia
• cleft palate
• imperforate anus
• congenital heart defect

Laboratory

• see ARUP consult

Differential diagnosis

• Smith-Lemli-Opitz syndrome type II
• pseudotrisomy 13 syndrome or holoprosencephaly-polydactyly syndrome (OMIM 264480)
• orofaciodigital (OFD) syndrome type VI or Varadi-Papp syndrome (OMIM 277170)
• hydrolethalus syndrome (OMIM 236680)

More general terms

• developmental disorder syndrome (multisystem disorder)
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/146510