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Adams-Oliver syndrome 3(AOS3)

MedGen UID:
766662
Concept ID:
C3553748
Disease or Syndrome
Synonym: AOS3
 
Gene (location): RBPJ (4p15.2)
 
Monarch Initiative: MONDO:0013895
OMIM®: 614814

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
Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).  http://www.omim.org/entry/614814
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

Clinical features

From HPO
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Absent toe
MedGen UID:
766668
Concept ID:
C3553754
Finding
Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
Short 5th toe
MedGen UID:
866760
Concept ID:
C4021111
Anatomical Abnormality
Underdevelopment (hypoplasia) of the fifth toe.
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Delayed gross motor development
MedGen UID:
332508
Concept ID:
C1837658
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Aplasia cutis congenita
MedGen UID:
79390
Concept ID:
C0282160
Congenital Abnormality
Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC.
Hypoplastic fifth fingernail
MedGen UID:
870244
Concept ID:
C4024682
Anatomical Abnormality
A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Dedania VS, Moinuddin O, Lagrou LM, Sathrasala S, Cord Medina FM, Del Monte MA, Chang EY, Bohnsack BL, Besirli CG
Ophthalmol Retina 2019 Sep;3(9):791-801. Epub 2019 May 1 doi: 10.1016/j.oret.2019.03.025. PMID: 31147303
Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC
Circ Cardiovasc Genet 2015 Aug;8(4):572-581. Epub 2015 May 11 doi: 10.1161/CIRCGENETICS.115.001086. PMID: 25963545Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Patel MS, Taylor GP, Bharya S, Al-Sanna'a N, Adatia I, Chitayat D, Suzanne Lewis ME, Human DG
Am J Med Genet A 2004 Sep 1;129A(3):294-9. doi: 10.1002/ajmg.a.30221. PMID: 15326631
Whitley CB, Gorlin RJ
Am J Med Genet 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. PMID: 1951437

Diagnosis

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
Schouten JN, Verheij J, Seijo S
Orphanet J Rare Dis 2015 May 30;10:67. doi: 10.1186/s13023-015-0288-8. PMID: 26025214Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Küster W, Lenz W, Kääriäinen H, Majewski F
Am J Med Genet 1988 Sep;31(1):99-115. doi: 10.1002/ajmg.1320310112. PMID: 3066221

Therapy

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

Prognosis

Kyriakou G, Gialeli E, Vryzaki E, Georgiou S
Acta Dermatovenerol Croat 2020 Dec;28(4):247-248. PMID: 33835001
Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS
Eur J Hum Genet 2014 Mar;22(3):374-8. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.159. PMID: 23860037Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Patel MS, Taylor GP, Bharya S, Al-Sanna'a N, Adatia I, Chitayat D, Suzanne Lewis ME, Human DG
Am J Med Genet A 2004 Sep 1;129A(3):294-9. doi: 10.1002/ajmg.a.30221. PMID: 15326631
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

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
Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC
Circ Cardiovasc Genet 2015 Aug;8(4):572-581. Epub 2015 May 11 doi: 10.1161/CIRCGENETICS.115.001086. PMID: 25963545Free 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
Temtamy SA, Aglan MS, Ashour AM, Zaki MS
Clin Dysmorphol 2007 Jul;16(3):141-149. doi: 10.1097/MCD.0b013e3280f9df22. PMID: 17551326
Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W
Eur J Hum Genet 2003 Jun;11(6):457-63. doi: 10.1038/sj.ejhg.5200980. PMID: 12774039

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