Oculocerebrocutaneous syndrome

Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.

Anophthalmia

Absence of the globe or eyeball.


Total: 6

                       


(per page)
PMID (PMCID)
25624688
(4302468)
 MALE Infant
Delleman Oorthuys syndrome.
Rizvi SW, Siddiqui MA, Khan AA, Siddiqui Z.
Middle East Afr J Ophthalmol. 2015;22(1):122-4.
Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages.
23215914
 MALE Infant
Congenital accessory palpebral aperture--an addition to the spectrum of Delleman syndrome.
Manudhane A, Arora R, Kapoor S, Rastogi A, Goyal JL.
Ophthalmic Genet. 2013;34(1-2):109-11.
Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations.
23215914
 MALE Infant
Congenital accessory palpebral aperture--an addition to the spectrum of Delleman syndrome.
Manudhane A, Arora R, Kapoor S, Rastogi A, Goyal JL.
Ophthalmic Genet. 2013;34(1-2):109-11.
Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations.
11125327
 MALE Infant, Newborn
Delleman syndrome: report of a case with a mild phenotype.
Cambiaghi S, Levet PS, Guala G, Baldini D, Gianotti R.
Eur J Dermatol. 2000;10(8):623-6.
Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome).
11125327
 MALE Infant, Newborn
Delleman syndrome: report of a case with a mild phenotype.
Cambiaghi S, Levet PS, Guala G, Baldini D, Gianotti R.
Eur J Dermatol. 2000;10(8):623-6.
Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome).
8986273
 MALE Infant
Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome?
Angle B, Hersh JH.
Am J Med Genet. 1997;68(1):39-42.
Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome?