GTR Home > Conditions/Phenotypes > Pallister-Hall syndrome

Disease characteristics

Excerpted from the GeneReview: Pallister-Hall Syndrome
Pallister-Hall syndrome (referred to as PHS in this entry) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.

Associated genes

  • Also known as: ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV, GLI3
    Summary: GLI family zinc finger 3

Clinical features

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  • Precocious puberty
  • Renal hypoplasia
  • Short stature
  • Microglossia
  • Distal shortening of limbs
  • Radial head subluxation
  • Midline facial capillary hemangioma
  • Laryngeal cleft
  • Preductal coarctation of the aorta
  • Primary adrenal insufficiency
  • Finger syndactyly
  • Hypoplasia of the epiglottis
  • Anteverted nares
  • Intrauterine growth retardation
  • Cognitive impairment
  • Nail dysplasia
  • Renal hypoplasia/aplasia
  • Low-set, posteriorly rotated ears
  • Ventricular septal defect
  • Ectopic kidney
  • Y-shaped metacarpals
  • Short 4th metacarpal
  • Microtia
  • Micrognathia
  • Seizure
  • Postaxial foot polydactyly
  • Renal cyst
  • Cleft palate
  • Multicystic kidney dysplasia
  • Cryptorchidism
  • Micropenis
  • Renal dysplasia
  • Cleft upper lip
  • Atresia of the external auditory canal
  • Microphthalmos
  • Natal tooth
  • Behavioral abnormality
  • Growth hormone deficiency
  • Anterior hypopituitarism
  • Adrenal hypoplasia
  • Panhypopituitarism
  • Rib fusion
  • Brachydactyly syndrome
  • Postaxial hand polydactyly
  • Abnormality of the fingernails
  • Holoprosencephaly
  • Patent ductus arteriosus
  • Abnormality of the heart valves
  • Toe syndactyly
  • Anal atresia
  • Abnormal lung lobation
  • Aganglionic megacolon
  • Hypothalamic hamartoma
  • Tracheoesophageal fistula
  • Hip dislocation
  • Hemivertebrae
  • Micromelia
  • Short nose
  • Depressed nasal bridge
  • Mesoaxial hand polydactyly
  • Aplasia/Hypoplasia of the corpus callosum
  • Thyroid dysgenesis
  • Hypocortisolemia
  • Abnormality of the toenail
  • Distal urethral duplication
  • Decreased testicular size
  • Mesoaxial foot polydactyly
  • Bifid epiglottis
  • Urogenital fistula
  • Oligodactyly
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