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Cryptophthalmos syndrome

MedGen UID:
82692
•Concept ID:
C0265233
•
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:
141025
•Concept ID:
C0441748
•
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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009046
OMIM®: 219000
OMIM® Phenotypic series: PS219000
Orphanet: ORPHA2052

Definition

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

PubMed

Clinical features and orbital anomalies in Fraser syndrome and a review of management options.
Das D, Modaboyina S, Raj S, Agrawal S, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2559-2563. doi: 10.4103/ijo.IJO_2627_21. PMID: 35791156Free PMC Article
Ethnicity and Metabolic Syndrome: Implications for Assessment, Management and Prevention.
Lear SA, Gasevic D
Nutrients 2019 Dec 19;12(1) doi: 10.3390/nu12010015. PMID: 31861719Free PMC Article
Migraine Aura: Pathophysiology, Mimics, and Treatment Options.
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

Etiology

Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.
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
Syndromes with cephaloceles.
Cohen MM Jr, Lemire RJ
Teratology 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. PMID: 7101196

Diagnosis

Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.
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
Fraser-cryptophthalmos syndrome.
Kabra M, Gulati S, Ghosh M, Menon PS
Indian J Pediatr 2000 Oct;67(10):775-8. doi: 10.1007/BF02723939. PMID: 11105430
Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).
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
The cryptophthalmos syndrome.
Erdener A, Mevsim A, Ulman I, Numanoglu I
J Pak Med Assoc 1990 Jun;40(6):138-9. PMID: 2118195
Isolated and syndromic cryptophthalmos.
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

Therapy

Partial unilateral cryptophthalmos with syndactyly, brachycephaly, and renal anomalies.
Waring GO, Shields JA
Am J Ophthalmol 1975 Mar;79(3):437-40. doi: 10.1016/0002-9394(75)90618-2. PMID: 164773

Prognosis

Fraser-Cryptophthalmos syndrome with cardiovascular malformations: a rare association.
Hambire SD, Bhavsar PP, B M, Jayakar AV
Indian Pediatr 2003 Sep;40(9):888-90. PMID: 14530551
Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome.
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

Fetal lung growth in congenital laryngeal atresia.
Wigglesworth JS, Desai R, Hislop AA
Pediatr Pathol 1987;7(5-6):515-25. doi: 10.3109/15513818709161415. PMID: 3449813
Female pseudohermaphroditism and associated anomalies.
Lubinsky MS
Am J Med Genet 1980;6(2):123-36. doi: 10.1002/ajmg.1320060206. PMID: 6449866
Cryptophthalmos with an orbital cyst and profound mental and motor retardation.
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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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
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