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Pallister-Hall syndrome

MIM.146510 7p13

Wednesday 2 March 2005

Autosomal dominant disease. Most cases are sporadic.

Synopsis

- systemic anomalies

  • intrauterine growth retardation
  • neonatal death

- craniofacial anomalies

- cardiovascular anomalies

- respiratory system anomalies

  • laryngeal cleft
  • bifid or hypoplastic epiglottis
  • abnormal lung lobation

- thoracic anomalies

  • fused ribs

- abdominal anomalies

- genitourinary system

- spinal anomalies

  • hemivertebrae

- limb anomalies

  • dislocated hips
  • distal shortening of limbs
  • radial subluxation
  • postaxial polydactyly
  • oligodactyly
  • short 4th metacarpals
  • syndactyly
  • postaxial polydactyly

- midline facial capillary hemangioma
- nail dysplasia

- cerebral anomalies

  • holoprosencephaly
  • hypothalamic hamartoblastoma
  • pituitary aplasia or dysplasia

- endocrine anomalies

Etiology

- mutations of GLI-Kruppel family member 3 gene GLI3 gene (MIM.165240)