PDAC Syndrome is a rare disorder affecting affecting multiple body systems. The affected protein favors uptake of retinoic acid which is a potent teratogen.
Synonyms: Spear Syndrome, Matthew-Wood Syndrome, Microphthalmic Syndrome 9
Gene: STRA6 (stimulated by retinoic acid 6)
Chromosome location: 15q24.1
Inheritance: autosomal recessive
Key features:
P: pulmonary hypoplasia or agenesis
D: diaphragmatic hernia or eventration
A: anophthalmia or microphthalmia
C: cardiac malformations
Most affected patients die in utero or as neonates.
Those that survive may have
(1) developmental delay
(2) bushy eyebrows
(3) duodenal stenosis
(4) pancreatic malformations
(5) growth retardation
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