[MIM 601 186, 615 524]

(anophthalmia-pulmonary hypoplasia syndrome, syndromic microphthalmia type 9, Spear syndrome, syndrome PDAC)

Rare. Autosomal recessive or dominant mutations of the STRA6 gene on 15q24.1.

Association of:

-        extreme microphthalmia or anophthalmia

-        hypoplasia or aplasia of the lung often accompanied by diaphragmatic hernia and aplasia of the ipsilateral pulmonary artery.

Sometimes: heart defect, micrognathia, cleft palate, low-set ears.

Anesthetic implications:

echocardiography; management of a diaphragmatic hernia; risk of difficult intubation/ventilation

References : 

• Chitayat D, Sroka H, Keating S, Colby RS et al.
  The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. 
  Am J Med Genet A 2007 ; 143A :1268-81.

Updated: January 2019