Definition: Adams-Oliver syndrome (AOS) is characterized by the association of scalp and skull defects and abnormalities of terminal limbs.
Adams-Oliver syndrome (AOS) is a condition characterized by the congenital absence of skin, known as ’aplasia cutis congenita,’ usually limited to the scalp vertex, and transverse limb defects.
The clinical features are highly variable and can also include vascular defects, congenital cardiac malformations, and other abnormalities.
Although autosomal dominant inheritance with reduced penetrance is most often observed, autosomal recessive inheritance has been reported. Congenital heart malformations have also been reported.
Synopsis
microcephaly
aplasia cutis congenita over parietal area
esotropia
microphthalmia
cleft lip
cleft palate
cardiac malformations (in some patients)
ventricular septal defect
atrial septal defect
pulmonary valve stenosis
tetrology of Fallot
pulmonary artery stenosis
pulmonary hypertension
vascular malformations
Poland sequence
accessory nipples
imperforate vaginal hymen
skull defect at vertex
terminal transverse defects, asymmetric (minimal to absence of a limb)
brachydactyly
syndactyly
malformed toes
talipes equinovarus
aplasia cutis congenita over posterior parietal area
aplasia cutis congenita on trunk or limbs
cutis marmorata
thin skin, hyperpigmented skin
dilated scalp veins radiating from periphery of scalp defect
hypoplastic nails
single-multiple round-oval areas of alopecia in parietal area
encephalocele (uncommon)
mental retardation (uncommon)
Associations
hepatoportal sclerosis (HPS) (15832360)