Focal dermal hypoplasia syndrome

Focal dermal hypoplasia syndrome is also known as Goltz syndrome, and is named confusingly similar to Gorlin-Goltz syndrome.

A rare disorder that follows X-linked dominant inheritance pattern. More commonly seen in males than female. Worldwide only 200-300 cases have been reported. Patients usually present at birth. 

  • cutaneous manifestations: hypopigmented or hyperpigmentated lesions can occur anywhere on the body.
    • fatty hernia-like outpouchings of skin, an exclusive feature of the goltz syndrome 
    • ulcerations can occur due to absence of dermal layers
  • skeletal manifestations: syndyctaly, osteopathia striata, multiple bone hypoplasias
  • facial asymmetry with ocular manifestations like coloboma, irregular pupils, aniridia, heterochromia, etc
  • cardiovascular manifestations: anamolous pulmonary venous drainage
  • gastrointestinal manifestations: malrotation, diaphragmatic hernia, omphalocoele
  • genitourinary manifestations: horseshoe kidney, renal agenesis

Mainly due to a mutation in the PORCN gene located on the X chromosome on locus p11.23.

The disease was first described By Goltz RW in 1962.

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Article information

rID: 44002
Section: Syndromes
Synonyms or Alternate Spellings:
  • Goltz syndrome

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