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Adams-Oliver syndrome 4(AOS4)

MedGen UID:
815422
Concept ID:
C3809092
Disease or Syndrome
Synonym: AOS4
 
Gene (location): EOGT (3p14.1)
 
Monarch Initiative: MONDO:0014124
OMIM®: 615297

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 congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).  http://www.omim.org/entry/615297
From MedlinePlus Genetics
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.

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.

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.

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.

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.  https://medlineplus.gov/genetics/condition/adams-oliver-syndrome

Clinical features

From HPO
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Absent middle phalanx of the 3rd toe
MedGen UID:
866663
Concept ID:
C4021010
Finding
Developmental aplasia of the middle phalanx of third toe.
Aplasia of the middle phalanx of the 4th toe
MedGen UID:
867722
Concept ID:
C4022111
Anatomical Abnormality
Aplasia of the distal phalanges of the toes
MedGen UID:
869335
Concept ID:
C4023761
Finding
Absence of the distal phalanges of the toes.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Cutis marmorata
MedGen UID:
78093
Concept ID:
C0263401
Disease or Syndrome
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.
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 toenails
MedGen UID:
332409
Concept ID:
C1837279
Finding
Underdevelopment of the toenail.
Toenail dysplasia
MedGen UID:
478253
Concept ID:
C3276623
Finding
An abnormality of the development of the toenails.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK
Eur J Hum Genet 2024 Jul;32(7):795-803. Epub 2024 May 22 doi: 10.1038/s41431-024-01629-4. PMID: 38778082Free PMC Article
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Ophthalmol Retina 2019 Sep;3(9):791-801. Epub 2019 May 1 doi: 10.1016/j.oret.2019.03.025. PMID: 31147303
Mesrati H, Amouri M, Chaaben H, Masmoudi A, Boudaya S, Turki H
Int J Dermatol 2015 Dec;54(12):1370-5. Epub 2015 May 27 doi: 10.1111/ijd.12707. PMID: 26016611
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
Arand AG, Ball WS, Crone KR
Pediatr Neurosurg 1991-1992;17(4):203-7. doi: 10.1159/000120598. PMID: 1822137

Diagnosis

Pillai MR, Pabolu C, R R, Chaudhary S, Sr K, Puthuran GV
J AAPOS 2024 Aug;28(4):103950. Epub 2024 Jun 10 doi: 10.1016/j.jaapos.2024.103950. PMID: 38866321
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK
Eur J Hum Genet 2024 Jul;32(7):795-803. Epub 2024 May 22 doi: 10.1038/s41431-024-01629-4. PMID: 38778082Free PMC Article
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
Micali G, Verzì AE, Quattrocchi E, Ng CY, Lacarrubba F
Dermatol Clin 2018 Oct;36(4):463-472. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.012. PMID: 30201155
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

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
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J Craniofac Surg 2002 Jul;13(4):497-500. doi: 10.1097/00001665-200207000-00003. PMID: 12140410

Prognosis

Kyriakou G, Gialeli E, Vryzaki E, Georgiou S
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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
Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K
J Hum Genet 2017 Sep;62(9):851-855. Epub 2017 Apr 27 doi: 10.1038/jhg.2017.48. PMID: 28446798
Lorenz L, Sönnichsen K, Müller-Hansen I, Poets C
Klin Padiatr 2014 Jul;226(4):250-1. Epub 2014 Feb 10 doi: 10.1055/s-0033-1364029. PMID: 24515817
Vandersteen AM, Dixon JW
Clin Dysmorphol 2011 Oct;20(4):210-213. doi: 10.1097/MCD.0b013e32834964d1. PMID: 21785343

Clinical prediction guides

De Zoysa P, Toubat O, Harvey D, Choi J, Kumar SR
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Chapman G, Moreau JLM, I P E, Szot JO, Iyer KR, Shi H, Yam MX, O'Reilly VC, Enriquez A, Greasby JA, Alankarage D, Martin EMMA, Hanna BC, Edwards M, Monger S, Blue GM, Winlaw DS, Ritchie HE, Grieve SM, Giannoulatou E, Sparrow DB, Dunwoodie SL
Hum Mol Genet 2020 Mar 13;29(4):566-579. doi: 10.1093/hmg/ddz270. PMID: 31813956Free PMC Article
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McGoey RR, Lacassie Y
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