[MIM 100 300, 614 219, 614 814, 616 028]

(Congenital anomaly of scalp - distal reduction of limbs)

Rare: 1/225,000? Autosomal dominant transmission, more often of a mutation in the ARHGAP31 gene at 3q13.33 (type 1), gene RBPJ at 4p15 (type 3) or NOTCH1 at 9q34 (type 5) but also, sometimes autosomal recessive: mutation of the DOCK6 gene at 19p13. for type 2 or gene EOGT at 3p14 for the type 4 or sporadic. Malformative syndrome associating in a variable way:

-         congenital cutaneous aplasia (aplasia cutis congenita) of the scalp (often in parietal areas) often accompanied by failure of ossification of the skull and various underlying anomalies: hydrocephalus, intracerebral vascular anomalies (thrombosis)

-         distal limb defects that are generally asymmetric: syndactyly, amputation of transverse type, brady - or oligodactyly 

-         and cutis marmorata telangiectasia,. 

-         sometimes: congenital heart disease (20%) (tetralogy of Fallot, pulmonary atresia, coarctation of the aorta), esophageal atresia, hepato-portal sclerosis, congenital cataract and other ocular anomalies (DOCK6 mutations), retineal vascularization anomaly, microphthalmia, fronto-nasal cysts, cleft lip or palate

Anesthetic implications: 

echocardiography; risk of meningitis in the neonatal period in case of skin and bone deficiency, management for the hydrocephalus, verify the absence of portal hypertension.

References : 

• Jaeggi E, Kind C, Morger R. 
  Congenital scalp and skull defects with terminal transverse limb anomales (Adams-Oliver syndrome) : report of three additional cases. 
  Eur J Pediatr 1990; 149: 565-6.
• Bayou F, Boussofara L, Lahmam Bennani Z, Ghariani N et al.
  Syndrome d’Adams-Oliver.
  Ann Dermato Vénéréol 2011; 138: 712-4.
• Al-Hadithy N, Mennie J, Stewart K.
  Two different management modalities in a two siblings case report of Adams Oliver syndrome.
  BMJ Case Reports 2011; doi:10.1136/bcr.10.2011. 4965.
• Stittrich A-B, Lehman A, Bodian DL et al. 
  Mutations in NOTCH1 cause Adams-Oliver syndrome. 
  Am J Hum Genet 2014 ; 95 : 275-84.
• Van Geyzel L, Gribbon C, Bradley S, Duffy D.
  Adams-Oliver syndrome associated with gastrointestinal malformations.
  BMJ Case Reports 2016; doi:10.1136/bcr-2016-217959
• Tan AP, Mankad K.
  Adams Oliver syndrome with cerebellar cortical dysplasia.
  Child’s Nerv Syst 2018; 34: 1109-10.

Updated:  July 2018