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Cryptophthalmos syndrome

MedGen UID:
Concept ID:
Congenital Abnormality; Disease or Syndrome
Synonym: Fraser syndrome
SNOMED CT: Cryptophthalmos, defect of auricle AND genital anomaly (204102004); Fraser syndrome (204102004); Cryptophthalmos syndrome (204102004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0009046
OMIM®: 219000
OMIM® Phenotypic series: PS219000
Orphanet: ORPHA2052


A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCryptophthalmos syndrome
Follow this link to review classifications for Cryptophthalmos syndrome in Orphanet.

Professional guidelines


Harwood R, Allin B, Jones CE, Whittaker E, Ramnarayan P, Ramanan AV, Kaleem M, Tulloh R, Peters MJ, Almond S, Davis PJ, Levin M, Tometzki A, Faust SN, Knight M, Kenny S; PIMS-TS National Consensus Management Study Group
Lancet Child Adolesc Health 2021 Feb;5(2):133-141. Epub 2020 Sep 18 doi: 10.1016/S2352-4642(20)30304-7. PMID: 32956615Free PMC Article
Lear SA, Gasevic D
Nutrients 2019 Dec 19;12(1) doi: 10.3390/nu12010015. PMID: 31861719Free PMC Article
Fraser CL, Hepschke JL, Jenkins B, Prasad S
Semin Neurol 2019 Dec;39(6):739-748. Epub 2019 Dec 17 doi: 10.1055/s-0039-1700525. PMID: 31847045

Recent clinical studies


Brimo Alsaman MZ, Agha S, Sallah H, Badawi R, Kitaz MN, Assani A, Nawfal H
BMC Pregnancy Childbirth 2020 Jun 10;20(1):358. doi: 10.1186/s12884-020-03048-x. PMID: 32522149Free PMC Article
Cohen MM Jr, Lemire RJ
Teratology 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. PMID: 7101196


Kabra M, Gulati S, Ghosh M, Menon PS
Indian J Pediatr 2000 Oct;67(10):775-8. doi: 10.1007/BF02723939. PMID: 11105430
Fryns JP, van Schoubroeck D, Vandenberghe K, Nagels H, Klerckx P
Prenat Diagn 1997 Jun;17(6):582-4. doi: 10.1002/(sici)1097-0223(199706)17:6<582::aid-pd107>3.0.co;2-y. PMID: 9203218
Erdener A, Mevsim A, Ulman I, Numanoglu I
J Pak Med Assoc 1990 Jun;40(6):138-9. PMID: 2118195
Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC
Am J Med Genet 1986 Sep;25(1):85-98. doi: 10.1002/ajmg.1320250111. PMID: 3099574
Wiznitzer A, Mazor M, Carmi R, Leiberman JR
Isr J Med Sci 1985 Jul;21(7):636-7. PMID: 4044227


Waring GO, Shields JA
Am J Ophthalmol 1975 Mar;79(3):437-40. doi: 10.1016/0002-9394(75)90618-2. PMID: 164773


Hambire SD, Bhavsar PP, B M, Jayakar AV
Indian Pediatr 2003 Sep;40(9):888-90. PMID: 14530551
Rousseau T, Laurent N, Thauvin-Robinet C, Lionnais S, Durand C, Faivre L, Sagot P
Prenat Diagn 2002 Aug;22(8):692-6. doi: 10.1002/pd.381. PMID: 12210578

Clinical prediction guides

Wigglesworth JS, Desai R, Hislop AA
Pediatr Pathol 1987;7(5-6):515-25. doi: 10.3109/15513818709161415. PMID: 3449813
Lubinsky MS
Am J Med Genet 1980;6(2):123-36. doi: 10.1002/ajmg.1320060206. PMID: 6449866
Butler MG, Eisen JD, Henry J
J Pediatr Ophthalmol Strabismus 1978 Jul-Aug;15(4):233-5. doi: 10.3928/0191-3913-19780701-11. PMID: 739357Free PMC Article

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