Apert Syndrome (Acrocephalosyndactyly type I)
also see Craniosynostosis
- "flat face, syndactyly"
- Mostly Sporadic, sometimes autosomal dominant
- Among a group of genetic disorders mainly associated with craniosynostosis
(Crouzon, Apert, Carpenter, Chotzen, Pfeiffer)
- Gene locus 10q26; evidence of mutations in fibroblast growth factor
receptor 2 (FGF R2) (Achondroplasia
involves FGF R3)
- Mental retardation in 50% (usually
normal intelligence in Crouzon)
- Craniofacial
- premature fusion of multiple sutures (incl coronal, sagittal, squamosal,
lambdoid); usually are sutures are abnormal except lambdoid
- head is tower
shaped and flat from front to back (short AP diameter of cranium)
- full forehead with flat occiput
- flat, assymetric facies, shallow orbits causing prominence of eyes (less
proptosis than crouzon), hypertelorism, small nose,
beaked
- palate is high, narrow, sometimes cleft
- Limb anomalies
-
syndactyly
of 2nd, 3rd, 4th fingers, which may be joined to thumb and 5th finger
"mitten hand;,
short fingers. (vs Pfeiffer: broad thumbs and big toes)
- similar abnormalities in feet
- progressive calcification and fusion of bones of hands, feet, c-spine
(c-spine C5-6 fusion seen in 70%)
- associated with advanced paternal age
For boards, ddx Apert,
Crouzon Syndrome,
Pfeiffer Syndrome.
Suture review
midline forehead: metopic
midline: sagittal
anteriolateral: coronal
posterolateral: lambdoid
CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes