Adams-oliver syndrome Q82.4

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Absence defects of limbs; AOS; aplasia cutis congenita with terminal transverse defects of limbs; scalp and skull; scalp defects with ectrodactyly

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Adams and Oliver, 1945

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Rare hereditary syndrome with varying degrees of aplasia cutis circumscripta of the scalp, underlying bony cranial defect, variable severity of ectodactyly and vascular malformations of varying expressiveness.

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Heterogeneous, both autosomal dominant inheritance with variable expressivity and reduced penetrance and autosomal recessive inheritance are described. Mutations in the NOTCH1 gene and the DOCK6 gene were detected.

Clinical features
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Scalp defects (Aplasia cutis circumscripta), bony cranial defects, dysmelia, syndactyly, cutis marmorata teleangiectatica congenita, cardiac vitae,

were also observed:

  • localized (scarred) alopecia (probably as a result of aplasia cutis)
  • accessory nipples
  • Malformation of the optic nerve and the optic papilla of the optic nerve
  • small or missing finger- and toenails

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  1. Adams H, Oliver CP (1945) Hereditary deformities in man to arrested development. J Hered 36: 3-8
  2. Bamforth JS, Kaurah P et al (1994) Adams-Oliver syndrome: a family with extreme variability in clinical expression. At J Med Genet 49: 393-396
  3. Beekmans SJ et al (2001) Surgical treatment of aplasia cutis in the Adams-Oliver syndrome. J Craniofac Surgery 12: 569-572
  4. Becker R et al (2002) Autosomal recessive type of Adams Oliver syndrome: prenatal diagnosis. Ultrasound Obstetric Gynecol 20: 506-510
  5. Lehman A et al(2014) Diffuse angiopathy in Adams Oliver syndrome associated with truncating DOCK6 mutations. At J Med Genet 164:2656-1662

  6. Mempel M et al (1999) The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases. Br J Dermatol 140: 1157-1160

  7. Stittrich AB et al (2014) Mutations in NOTCH1 Cause Adams-Oliver Syndrome. On J Hum Genet 95:275-284

  8. Toriello HV, Graff RG, Florentine MF et al (1988) Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? At J Med Genet 29: 269-276
  9. Unay B et al (2001) Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. Clin Dysmorphol 10: 223-225


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Last updated on: 29.10.2020