U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Adams-Oliver syndrome

MedGen UID:
78544
Concept ID:
C0265268
Disease or Syndrome
Synonyms: Adams Oliver syndrome; AOS; Congenital absence of skin on scalp with limb-reduction anomaly; Congenital scalp defects with distal limb anomalies; congenital scalp defects with distal limb anomalies; congenital scalp defects with distal limb reduction anomalies; Congenital scalp defects with distal limb reduction anomalies; limb scalp and skull defects; Limb, scalp and skull defects; limb, scalp and skull defects; Type 2 aplasia cutis
SNOMED CT: Type 2 aplasia cutis (34748004); Congenital absence of skin on scalp with limb-reduction anomaly (34748004); Adams-Oliver syndrome (34748004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: EOGT, DOCK6, ARHGAP31, RBPJ
 
Monarch Initiative: MONDO:0007034
OMIM® Phenotypic series: PS100300
Orphanet: ORPHA974

Definition

Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies. [from GeneReviews]

Additional descriptions

From OMIM
Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). Genetic Heterogeneity of Adams-Oliver Syndrome Other autosomal dominant forms of Adams-Oliver syndrome include AOS3 (614814), caused by mutation in the RBPJ gene (147183) on chromosome 4p15; AOS5 (616028), caused by mutation in the NOTCH1 gene (190198) on chromosome 9q34; and AOS6 (616589), caused by mutation in the DLL4 gene (605185) on chromosome 15q15.1. Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (614219), caused by mutation in the DOCK6 gene (614194) on chromosome 19p13, and AOS4 (615297), caused by mutation in the EOGT gene (614789) on chromosome 3p14.  http://www.omim.org/entry/100300
From MedlinePlus Genetics
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.

Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.

Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.

Some affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals.

In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.  https://medlineplus.gov/genetics/condition/adams-oliver-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Adams-Oliver syndrome in Orphanet.

Professional guidelines

PubMed

Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G
Am J Med Genet A 2020 Jan;182(1):29-37. Epub 2019 Oct 25 doi: 10.1002/ajmg.a.61364. PMID: 31654484
Browning JC
Dermatol Ther 2013 Nov-Dec;26(6):439-44. doi: 10.1111/dth.12106. PMID: 24552406

Recent clinical studies

Etiology

Ogawa M, Sawaguchi S, Kamemura K, Okajima T
Exp Neurol 2015 Dec;274(Pt B):166-74. Epub 2015 Aug 14 doi: 10.1016/j.expneurol.2015.08.009. PMID: 26278182
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Papadopoulou E, Sifakis S, Raissaki M, Germanakis I, Kalmanti M
Am J Med Genet A 2008 Oct 1;146A(19):2545-50. doi: 10.1002/ajmg.a.32410. PMID: 18792979
Whitley CB, Gorlin RJ
Am J Med Genet 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. PMID: 1951437
Arand AG, Ball WS, Crone KR
Pediatr Neurosurg 1991-1992;17(4):203-7. doi: 10.1159/000120598. PMID: 1822137

Diagnosis

Gao Y, Fu Z, Guan J, Liu X, Zhang Q
Biochem Pharmacol 2023 Jan;207:115377. Epub 2022 Dec 10 doi: 10.1016/j.bcp.2022.115377. PMID: 36513140
Kasinathan A, Sharawat IK, Das G, Sankhyan N
Indian J Pediatr 2019 Jan;86(1):101-102. Epub 2018 Jun 9 doi: 10.1007/s12098-018-2720-2. PMID: 29948730
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W
Hum Mutat 2018 Sep;39(9):1246-1261. Epub 2018 Jul 4 doi: 10.1002/humu.23567. PMID: 29924900Free PMC Article
Hassed S, Li S, Mulvihill J, Aston C, Palmer S
Am J Med Genet A 2017 Mar;173(3):790-800. Epub 2017 Feb 4 doi: 10.1002/ajmg.a.37889. PMID: 28160419
Madan A, Sardana K, Garg VK
Indian Pediatr 2015 Jul;52(7):633-4. PMID: 26244971

Therapy

Sezgin B, Sibar S, Findikcioglu K, Sencan A, Emmez H, Baykaner K, Ozmen S
J Wound Care 2017 Jun 2;26(6):342-345. doi: 10.12968/jowc.2017.26.6.342. PMID: 28598754
Kalina MA, Kalina-Faska B, Paprocka J, Jamroz E, Pyrkosz A, Marszał E, Małecka-Tendera E
Clin Genet 2010 Sep;78(3):227-35. Epub 2010 May 22 doi: 10.1111/j.1399-0004.2010.01470.x. PMID: 20560985
Rhee ST, Colville C, Buchman SR, Muraszko K
J Craniofac Surg 2002 Jul;13(4):497-500. doi: 10.1097/00001665-200207000-00003. PMID: 12140410

Prognosis

Alzahem T, Alsalamah AK, Mura M, Alsulaiman SM
Ophthalmic Genet 2020 Aug;41(4):377-380. Epub 2020 Jun 5 doi: 10.1080/13816810.2020.1776339. PMID: 32498638
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Papadopoulou E, Sifakis S, Raissaki M, Germanakis I, Kalmanti M
Am J Med Genet A 2008 Oct 1;146A(19):2545-50. doi: 10.1002/ajmg.a.32410. PMID: 18792979
Swartz EN, Sanatani S, Sandor GG, Schreiber RA
Am J Med Genet 1999 Jan 1;82(1):49-52. doi: 10.1002/(sici)1096-8628(19990101)82:1<49::aid-ajmg10>3.0.co;2-m. PMID: 9916843
Whitley CB, Gorlin RJ
Am J Med Genet 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. PMID: 1951437

Clinical prediction guides

Meyer BI, Williams PJ, Hanif AM, Lenhart PD, Hubbard GB 3rd, Jain N
Retin Cases Brief Rep 2022 Nov 1;16(6):762-765. doi: 10.1097/ICB.0000000000001073. PMID: 33323896
Suarez E, Bertoli MJ, Eloy JD, Shah SP
BMC Anesthesiol 2021 Apr 15;21(1):117. doi: 10.1186/s12871-021-01339-0. PMID: 33858352Free PMC Article
Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W
Am J Hum Genet 2015 Sep 3;97(3):475-82. Epub 2015 Aug 20 doi: 10.1016/j.ajhg.2015.07.015. PMID: 26299364Free PMC Article
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS
Am J Hum Genet 2014 Sep 4;95(3):275-84. Epub 2014 Aug 14 doi: 10.1016/j.ajhg.2014.07.011. PMID: 25132448Free PMC Article
Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W
Clin Genet 2006 Jan;69(1):86-92. doi: 10.1111/j.1399-0004.2006.00552.x. PMID: 16451141

Recent systematic reviews

van Nisselrooij AEL, Herling L, Clur SA, Linskens IH, Pajkrt E, Rammeloo LA, Ten Harkel ADJ, Hazekamp MG, Blom NA, Haak MC
Prenat Diagn 2021 May;41(6):754-765. Epub 2021 Feb 26 doi: 10.1002/pd.5907. PMID: 33480066Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...