Finlay-Marks syndrome: report of two siblings and review of literature

Am J Med Genet A. 2012 Jul;158A(7):1696-701. doi: 10.1002/ajmg.a.35389. Epub 2012 May 25.


Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous syndactyly of digits. Renal anomalies have been reported in some patients leading to hypertension and renal insufficiency. Most reported patients have been sporadic but familial occurrences following an autosomal dominant pattern of inheritance have been reported. We report on two affected siblings, of whom one died in the neonatal period due to renal failure. Two affected siblings born to non-affected parents may suggest an autosomal recessive inheritance.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Child, Preschool
  • Consanguinity
  • Ear, External / abnormalities
  • Fatal Outcome
  • Female
  • Humans
  • Hypospadias / diagnosis*
  • Infant
  • Karyotype
  • Male
  • Muscle Hypotonia / diagnosis*
  • Nipples / abnormalities
  • Phenotype
  • Scalp / abnormalities
  • Siblings

Supplementary concepts

  • Scalp ear nipple syndrome