(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
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.
Updated: July 2018