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ACCES syndrome(ACCES)

MedGen UID:
1804308
Concept ID:
C5677019
Disease or Syndrome
Synonyms: ACCES; APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME
 
Gene (location): UBA2 (19q13.11)
 
Monarch Initiative: MONDO:0859262
OMIM®: 619959

Definition

Aplasia cutis congenita and ectrodactyly skeletal syndrome (ACCES) is characterized by highly variable expressivity, even within the same family. Most patients exhibit scalp defects, whereas ectrodactyly is less common; however, more variable and less obvious digital and skeletal anomalies are often present. Early growth deficiency and neurodevelopmental delay are also commonly seen (Schnur et al., 2021). [from OMIM]

Clinical features

From HPO
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Ectrodactyly
MedGen UID:
78566
Concept ID:
C0265554
Congenital Abnormality
A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
Split foot
MedGen UID:
140919
Concept ID:
C0432028
Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Hip dysplasia
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Aplasia cutis congenita of scalp
MedGen UID:
343411
Concept ID:
C1855698
Congenital Abnormality
A developmental defect resulting in the congenital absence of skin on the scalp.
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.
Duane anomaly
MedGen UID:
4413
Concept ID:
C0013261
Disease or Syndrome
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Professional guidelines

PubMed

Ordean A, Wong S, Graves L
J Obstet Gynaecol Can 2017 Oct;39(10):938-956.e3. doi: 10.1016/j.jogc.2017.06.026. PMID: 28935058

Recent clinical studies

Etiology

Stanevich OV, Fomina DS, Bakulin IG, Galeev SI, Bakin EA, Belash VA, Kulikov AN, Lebedeva AA, Lioznov DA, Polushin YS, Shlyk IV, Vorobyev EA, Vorobyeva SV, Surovceva TV, Bakulina NV, Lysenko MA, Moiseev IS
BMC Infect Dis 2021 Dec 22;21(1):1277. doi: 10.1186/s12879-021-06982-z. PMID: 34937556Free PMC Article
Woudenberg T, Pelleau S, Anna F, Attia M, Donnadieu F, Gravet A, Lohmann C, Seraphin H, Guiheneuf R, Delamare C, Stefic K, Marlet J, Brochot E, Castelain S, Augereau O, Sibilia J, Dubos F, Meddour D, Guen CG, Coste-Burel M, Imbert-Marcille BM, Chauvire-Drouard A, Schweitzer C, Gatin A, Lomazzi S, Joulié A, Haas H, Cantais A, Bertholon F, Chinazzo-Vigouroux MF, Abdallah MS, Arowas L, Charneau P, Hoen B, Demeret C, Werf SV, Fontanet A, White M
EBioMedicine 2021 Aug;70:103495. Epub 2021 Jul 23 doi: 10.1016/j.ebiom.2021.103495. PMID: 34304047Free PMC Article
Belizna C, Pregnolato F, Abad S, Alijotas-Reig J, Amital H, Amoura Z, Andreoli L, Andres E, Aouba A, Apras Bilgen S, Arnaud L, Bienvenu B, Bitsadze V, Blanco P, Blank M, Borghi MO, Caligaro A, Candrea E, Canti V, Chiche L, Chretien JM, Cohen Tervaert JW, Damian L, Delross T, Dernis E, Devreese K, Djokovic A, Esteve-Valverde E, Favaro M, Fassot C, Ferrer-Oliveras R, Godon A, Hamidou M, Hasan M, Henrion D, Imbert B, Jeandel PY, Jeannin P, Jego P, Jourde-Chiche N, Khizroeva J, Lambotte O, Landron C, Latino JO, Lazaro E, de Leeuw K, Le Gallou T, Kiliç L, Limper M, Loufrani L, Lubin R, Magy-Bertrand N, Mahe G, Makatsariya A, Martin T, Muchardt C, Nagy G, Omarjee L, Van Paasen P, Pernod G, Perrinet F, Pïres Rosa G, Pistorius MA, Ruffatti A, Said F, Saulnier P, Sene D, Sentilhes L, Shovman O, Sibilia J, Sinescu C, Stanisavljevic N, Stojanovich L, Tam LS, Tincani A, Tollis F, Udry S, Ungeheuer MN, Versini M, Cervera R, Meroni PL
Autoimmun Rev 2018 Dec;17(12):1153-1168. Epub 2018 Oct 12 doi: 10.1016/j.autrev.2018.05.012. PMID: 30316994
Djouma FN, Ateudjieu J, Ram M, Debes AK, Sack DA
Am J Trop Med Hyg 2016 Dec 7;95(6):1287-1291. Epub 2016 Oct 17 doi: 10.4269/ajtmh.16-0300. PMID: 27928079Free PMC Article
Cameron F, Xu J, Jung J, Prasad C
Can J Neurol Sci 2013 Nov;40(6):777-82. doi: 10.1017/s0317167100015882. PMID: 24257216

Diagnosis

Stanevich OV, Fomina DS, Bakulin IG, Galeev SI, Bakin EA, Belash VA, Kulikov AN, Lebedeva AA, Lioznov DA, Polushin YS, Shlyk IV, Vorobyev EA, Vorobyeva SV, Surovceva TV, Bakulina NV, Lysenko MA, Moiseev IS
BMC Infect Dis 2021 Dec 22;21(1):1277. doi: 10.1186/s12879-021-06982-z. PMID: 34937556Free PMC Article
Derbel B, Krarti N, Ghedira F, Ben Mrad M, Hedhli M, Ziadi J, Denguir R
J Med Vasc 2019 Sep;44(5):354-358. Epub 2019 Aug 7 doi: 10.1016/j.jdmv.2019.06.005. PMID: 31474348
Belizna C, Stojanovich L, Cohen-Tervaert JW, Fassot C, Henrion D, Loufrani L, Nagy G, Muchardt C, Hasan M, Ungeheuer MN, Arnaud L, Alijotas-Reig J, Esteve-Valverde E, Nicoletti F, Saulnier P, Godon A, Reynier P, Chrétien JM, Damian L, Omarjee L, Mahé G, Pistorius MA, Meroni PL, Devreese K
Autoimmun Rev 2018 Aug;17(8):739-745. Epub 2018 Jun 6 doi: 10.1016/j.autrev.2018.01.027. PMID: 29885541
Ajong AB, Njotang PN, Nghoniji NE, Essi MJ, Yakum MN, Agbor VN, Kenfack B
Global Health 2018 Jun 5;14(1):56. doi: 10.1186/s12992-018-0374-5. PMID: 29866206Free PMC Article
Cameron F, Xu J, Jung J, Prasad C
Can J Neurol Sci 2013 Nov;40(6):777-82. doi: 10.1017/s0317167100015882. PMID: 24257216

Therapy

Stanevich OV, Fomina DS, Bakulin IG, Galeev SI, Bakin EA, Belash VA, Kulikov AN, Lebedeva AA, Lioznov DA, Polushin YS, Shlyk IV, Vorobyev EA, Vorobyeva SV, Surovceva TV, Bakulina NV, Lysenko MA, Moiseev IS
BMC Infect Dis 2021 Dec 22;21(1):1277. doi: 10.1186/s12879-021-06982-z. PMID: 34937556Free PMC Article
Woudenberg T, Pelleau S, Anna F, Attia M, Donnadieu F, Gravet A, Lohmann C, Seraphin H, Guiheneuf R, Delamare C, Stefic K, Marlet J, Brochot E, Castelain S, Augereau O, Sibilia J, Dubos F, Meddour D, Guen CG, Coste-Burel M, Imbert-Marcille BM, Chauvire-Drouard A, Schweitzer C, Gatin A, Lomazzi S, Joulié A, Haas H, Cantais A, Bertholon F, Chinazzo-Vigouroux MF, Abdallah MS, Arowas L, Charneau P, Hoen B, Demeret C, Werf SV, Fontanet A, White M
EBioMedicine 2021 Aug;70:103495. Epub 2021 Jul 23 doi: 10.1016/j.ebiom.2021.103495. PMID: 34304047Free PMC Article
Belizna C, Pregnolato F, Abad S, Alijotas-Reig J, Amital H, Amoura Z, Andreoli L, Andres E, Aouba A, Apras Bilgen S, Arnaud L, Bienvenu B, Bitsadze V, Blanco P, Blank M, Borghi MO, Caligaro A, Candrea E, Canti V, Chiche L, Chretien JM, Cohen Tervaert JW, Damian L, Delross T, Dernis E, Devreese K, Djokovic A, Esteve-Valverde E, Favaro M, Fassot C, Ferrer-Oliveras R, Godon A, Hamidou M, Hasan M, Henrion D, Imbert B, Jeandel PY, Jeannin P, Jego P, Jourde-Chiche N, Khizroeva J, Lambotte O, Landron C, Latino JO, Lazaro E, de Leeuw K, Le Gallou T, Kiliç L, Limper M, Loufrani L, Lubin R, Magy-Bertrand N, Mahe G, Makatsariya A, Martin T, Muchardt C, Nagy G, Omarjee L, Van Paasen P, Pernod G, Perrinet F, Pïres Rosa G, Pistorius MA, Ruffatti A, Said F, Saulnier P, Sene D, Sentilhes L, Shovman O, Sibilia J, Sinescu C, Stanisavljevic N, Stojanovich L, Tam LS, Tincani A, Tollis F, Udry S, Ungeheuer MN, Versini M, Cervera R, Meroni PL
Autoimmun Rev 2018 Dec;17(12):1153-1168. Epub 2018 Oct 12 doi: 10.1016/j.autrev.2018.05.012. PMID: 30316994
Ajong AB, Njotang PN, Nghoniji NE, Essi MJ, Yakum MN, Agbor VN, Kenfack B
Global Health 2018 Jun 5;14(1):56. doi: 10.1186/s12992-018-0374-5. PMID: 29866206Free PMC Article
Frémond ML, Pérot P, Muth E, Cros G, Dumarest M, Mahlaoui N, Seilhean D, Desguerre I, Hébert C, Corre-Catelin N, Neven B, Lecuit M, Blanche S, Picard C, Eloit M
J Pediatric Infect Dis Soc 2015 Sep;4(3):e53-7. Epub 2015 Jul 12 doi: 10.1093/jpids/piv040. PMID: 26407445

Prognosis

Badr HS, Colston JM, Nguyen NH, Chen YT, Burnett E, Ali SA, Rayamajhi A, Satter SM, Van Trang N, Eibach D, Krumkamp R, May J, Adegnika AA, Manouana GP, Kremsner PG, Chilengi R, Hatyoka L, Debes AK, Ateudjieu J, Faruque ASG, Hossain MJ, Kanungo S, Kotloff KL, Mandomando I, Nisar MI, Omore R, Sow SO, Zaidi AKM, Lambrecht N, Adu B, Page N, Platts-Mills JA, Mavacala Freitas C, Pelkonen T, Ashorn P, Maleta K, Ahmed T, Bessong P, Bhutta ZA, Mason C, Mduma E, Olortegui MP, Peñataro Yori P, Lima AAM, Kang G, Humphrey J, Ntozini R, Prendergast AJ, Okada K, Wongboot W, Langeland N, Moyo SJ, Gaensbauer J, Melgar M, Freeman M, Chard AN, Thongpaseuth V, Houpt E, Zaitchik BF, Kosek MN
Lancet Glob Health 2023 Mar;11(3):e373-e384. doi: 10.1016/S2214-109X(22)00549-6. PMID: 36796984Free PMC Article
Stanevich OV, Fomina DS, Bakulin IG, Galeev SI, Bakin EA, Belash VA, Kulikov AN, Lebedeva AA, Lioznov DA, Polushin YS, Shlyk IV, Vorobyev EA, Vorobyeva SV, Surovceva TV, Bakulina NV, Lysenko MA, Moiseev IS
BMC Infect Dis 2021 Dec 22;21(1):1277. doi: 10.1186/s12879-021-06982-z. PMID: 34937556Free PMC Article
Derbel B, Krarti N, Ghedira F, Ben Mrad M, Hedhli M, Ziadi J, Denguir R
J Med Vasc 2019 Sep;44(5):354-358. Epub 2019 Aug 7 doi: 10.1016/j.jdmv.2019.06.005. PMID: 31474348
Cameron F, Xu J, Jung J, Prasad C
Can J Neurol Sci 2013 Nov;40(6):777-82. doi: 10.1017/s0317167100015882. PMID: 24257216

Clinical prediction guides

Badr HS, Colston JM, Nguyen NH, Chen YT, Burnett E, Ali SA, Rayamajhi A, Satter SM, Van Trang N, Eibach D, Krumkamp R, May J, Adegnika AA, Manouana GP, Kremsner PG, Chilengi R, Hatyoka L, Debes AK, Ateudjieu J, Faruque ASG, Hossain MJ, Kanungo S, Kotloff KL, Mandomando I, Nisar MI, Omore R, Sow SO, Zaidi AKM, Lambrecht N, Adu B, Page N, Platts-Mills JA, Mavacala Freitas C, Pelkonen T, Ashorn P, Maleta K, Ahmed T, Bessong P, Bhutta ZA, Mason C, Mduma E, Olortegui MP, Peñataro Yori P, Lima AAM, Kang G, Humphrey J, Ntozini R, Prendergast AJ, Okada K, Wongboot W, Langeland N, Moyo SJ, Gaensbauer J, Melgar M, Freeman M, Chard AN, Thongpaseuth V, Houpt E, Zaitchik BF, Kosek MN
Lancet Glob Health 2023 Mar;11(3):e373-e384. doi: 10.1016/S2214-109X(22)00549-6. PMID: 36796984Free PMC Article
Stanevich OV, Fomina DS, Bakulin IG, Galeev SI, Bakin EA, Belash VA, Kulikov AN, Lebedeva AA, Lioznov DA, Polushin YS, Shlyk IV, Vorobyev EA, Vorobyeva SV, Surovceva TV, Bakulina NV, Lysenko MA, Moiseev IS
BMC Infect Dis 2021 Dec 22;21(1):1277. doi: 10.1186/s12879-021-06982-z. PMID: 34937556Free PMC Article
Woudenberg T, Pelleau S, Anna F, Attia M, Donnadieu F, Gravet A, Lohmann C, Seraphin H, Guiheneuf R, Delamare C, Stefic K, Marlet J, Brochot E, Castelain S, Augereau O, Sibilia J, Dubos F, Meddour D, Guen CG, Coste-Burel M, Imbert-Marcille BM, Chauvire-Drouard A, Schweitzer C, Gatin A, Lomazzi S, Joulié A, Haas H, Cantais A, Bertholon F, Chinazzo-Vigouroux MF, Abdallah MS, Arowas L, Charneau P, Hoen B, Demeret C, Werf SV, Fontanet A, White M
EBioMedicine 2021 Aug;70:103495. Epub 2021 Jul 23 doi: 10.1016/j.ebiom.2021.103495. PMID: 34304047Free PMC Article
Derbel B, Krarti N, Ghedira F, Ben Mrad M, Hedhli M, Ziadi J, Denguir R
J Med Vasc 2019 Sep;44(5):354-358. Epub 2019 Aug 7 doi: 10.1016/j.jdmv.2019.06.005. PMID: 31474348
Ajong AB, Njotang PN, Nghoniji NE, Essi MJ, Yakum MN, Agbor VN, Kenfack B
Global Health 2018 Jun 5;14(1):56. doi: 10.1186/s12992-018-0374-5. PMID: 29866206Free PMC Article

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