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Oculocerebrocutaneous syndrome(OCCS)

MedGen UID:
163214
Concept ID:
C0796092
Disease or Syndrome
Synonyms: DELLEMAN SYNDROME; OCC Syndrome; OCCS; ORBITAL CYST WITH CEREBRAL AND FOCAL DERMAL MALFORMATIONS
SNOMED CT: Delleman-Oorthuys syndrome (403554008); Oculocerebrocutaneous syndrome (403554008)
Modes of inheritance:
 
Monarch Initiative: MONDO:0008108
OMIM®: 164180
Orphanet: ORPHA1647

Definition

A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability. [from ORDO]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculocerebrocutaneous syndrome

Recent clinical studies

Etiology

Arora V, Kim UR, Khazei HM
Indian J Ophthalmol 2009 Sep-Oct;57(5):387-9. doi: 10.4103/0301-4738.55074. PMID: 19700879Free PMC Article
Brown KE, Goldstein SM, Douglas RS, Katowitz JA
J AAPOS 2003 Apr;7(2):148-9. doi: 10.1016/mpa.2003.S1091853103000120. PMID: 12736631
Tambe KA, Ambekar SV, Bafna PN
Eur J Paediatr Neurol 2003;7(2):77-80. doi: 10.1016/s1090-3798(03)00017-5. PMID: 12697431
Cambiaghi S, Levet PS, Guala G, Baldini D, Gianotti R
Eur J Dermatol 2000 Dec;10(8):623-6. PMID: 11125327
Moog U, Krüger G, Stengel B, De Die-Smulders C, Dykstra S, Bleeker-Wagemakers E
Genet Couns 1996;7(4):257-65. PMID: 8985729

Diagnosis

Sprenger F, de Oliveira Salvador GL, Vinholi G, Bertholdo DB, de Almeida Teixeira BC
Childs Nerv Syst 2022 Jun;38(6):1189-1193. Epub 2021 Sep 29 doi: 10.1007/s00381-021-05366-7. PMID: 34586492
Jamjoom H, Osman M, AlMoallem B, Osman EA
Eur J Ophthalmol 2022 Jan;32(1):NP66-NP70. Epub 2020 Nov 4 doi: 10.1177/1120672120964696. PMID: 33147988
Rizvi SW, Siddiqui MA, Khan AA, Siddiqui Z
Middle East Afr J Ophthalmol 2015 Jan-Mar;22(1):122-4. doi: 10.4103/0974-9233.148363. PMID: 25624688Free PMC Article
Saatci AO, Arikan G, Saatci P, Saatci Y, Kavukcu S
J Pediatr Ophthalmol Strabismus 2008 May-Jun;45(3):181-3. doi: 10.3928/01913913-20080501-19. PMID: 18524200
Hunter AG
Am J Med Genet A 2006 Apr 1;140(7):709-26. doi: 10.1002/ajmg.a.31149. PMID: 16523517

Prognosis

Arora V, Kim UR, Khazei HM
Indian J Ophthalmol 2009 Sep-Oct;57(5):387-9. doi: 10.4103/0301-4738.55074. PMID: 19700879Free PMC Article
Hunter AG
Am J Med Genet A 2006 Apr 1;140(7):709-26. doi: 10.1002/ajmg.a.31149. PMID: 16523517
McCandless SE, Robin NH
Am J Med Genet 1998 Jul 7;78(3):282-5. doi: 10.1002/(sici)1096-8628(19980707)78:3<282::aid-ajmg15>3.0.co;2-b. PMID: 9677067
Moog U, Krüger G, Stengel B, De Die-Smulders C, Dykstra S, Bleeker-Wagemakers E
Genet Couns 1996;7(4):257-65. PMID: 8985729
Loggers HE, Oosterwijk JC, Overweg-Plandsoen WC, van Wilsem A, Bleeker-Wagemakers EM, Bijlsma JB
Ophthalmic Paediatr Genet 1992 Sep;13(3):171-7. doi: 10.3109/13816819209046486. PMID: 1484695

Clinical prediction guides

Sprenger F, de Oliveira Salvador GL, Vinholi G, Bertholdo DB, de Almeida Teixeira BC
Childs Nerv Syst 2022 Jun;38(6):1189-1193. Epub 2021 Sep 29 doi: 10.1007/s00381-021-05366-7. PMID: 34586492
Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB
Am J Med Genet A 2004 Jan 15;124A(2):202-8. doi: 10.1002/ajmg.a.20377. PMID: 14699622
Romiti R, Rengifo JA, Arnone M, Sotto MN, Valente NY, Jansen T
J Dermatol 1999 Dec;26(12):808-12. doi: 10.1111/j.1346-8138.1999.tb02097.x. PMID: 10659502

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