[MIM 181 270]

(Finlay-Marks syndrome, Scalp-Ear-Nipple syndrome, SEN syndrome)

Prevalence: < 1.106. Autosomal dominant transmission with variable penetrance of a mutation of the KTCD1 gene (18q11.2) that intervenes in the ectodermal development. A possible form with autosomal recessive transmission exists with severe hypotonia, and mental retardation.

This syndrome is characterized by a triad:

-        congenital cutis aplasia (see this term) at the level of the scalp with congenital denuded areas of the posterior scalp, healing during childhood

-        protruding hypoplastic ears with small tragus, antitragus and lobule

-        anomalies of the breast development: bilateral hypomastia or amastia

Other anomalies have been described:

-        renal and urinary: renal hypoplasia, ureteral duplication

-        ocular: cataract, iridal coloboma, asymmetric pupils

-        dental: widely spaced teeth

-        proximal cutaneous syndactyly (hand/foot), ungueal dystrophy

Anesthetic implications:

check the renal function; fragile teeth

References : 

-        Naik P, Kini P, Chopra D, Gupta Y.
Finlay-Marks syndrome : report of two siblings and review of literature.
Am J Med Genet A 2012; 158A: 1696-1701.

Updated: June 2019