U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Corneal dystrophy-perceptive deafness syndrome(CDPD)

MedGen UID:
387858
•Concept ID:
C1857572
•
Disease or Syndrome
Synonyms: CDPD; Congenital corneal dystrophy, progressive sensorineural deafness; Corneal dystrophy and perceptive deafness; Corneal dystrophy and sensorineural deafness; Harboyan syndrome
SNOMED CT: Corneal dystrophy and perceptive deafness syndrome (720749004); Corneal dystrophy with progressive deafness (720749004); Harboyan syndrome (720749004); Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (720749004)
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)
 
Gene (location): SLC4A11 (20p13)
 
Monarch Initiative: MONDO:0009015
OMIM®: 217400
Orphanet: ORPHA1490

Definition

Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by Desir et al., 2007). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature
Corneal dystrophy
MedGen UID:
3619
•Concept ID:
C0010036
•
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Opacification of the corneal stroma
MedGen UID:
602191
•Concept ID:
C0423250
•
Finding
Reduced transparency of the stroma of cornea.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCorneal dystrophy-perceptive deafness syndrome
Follow this link to review classifications for Corneal dystrophy-perceptive deafness syndrome in Orphanet.

Professional guidelines

PubMed

Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC
Orphanet J Rare Dis 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. PMID: 23642083Free PMC Article

Recent clinical studies

Etiology

Newborn Glaucoma: A Neglected Manifestation of Congenital Rubella Syndrome.
Kaushik S, Choudhary S, Dhingra D, Singh MP, Gupta G, Arora A, Thattaruthody F, Pandav SS
Ophthalmol Glaucoma 2022 Jul-Aug;5(4):428-435. Epub 2021 Dec 24 doi: 10.1016/j.ogla.2021.12.005. PMID: 34954410
Reduced Corneal Sensitivity With Neuronal Degeneration is a Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Bartosiewicz K, Studzian M, Pułaski Ł, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W
Am J Ophthalmol 2022 Apr;236:63-68. Epub 2021 Oct 26 doi: 10.1016/j.ajo.2021.09.030. PMID: 34710353
Corneal Abnormalities Are Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Braun M, Zielonka E, Ivask M, Koks S, Jurowski P, Młynarski W
Am J Ophthalmol 2020 Sep;217:140-151. Epub 2020 Apr 23 doi: 10.1016/j.ajo.2020.04.012. PMID: 32335055
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC
Orphanet J Rare Dis 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. PMID: 23642083Free PMC Article
Do you know this syndrome?
Enei ML, Cassettari A, Córdova S, Torres O, Paschoal F
An Bras Dermatol 2011 Jul-Aug;86(4):819-21. doi: 10.1590/s0365-05962011000400037. PMID: 21987161

Diagnosis

Harboyan Syndrome.
Javaid A, Orakzai AA
J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(Suppl 1)(4):S701-S703. PMID: 33754535
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC
Orphanet J Rare Dis 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. PMID: 23642083Free PMC Article
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
Desir J, Abramowicz M
Orphanet J Rare Dis 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. PMID: 18922146Free PMC Article
Cogan syndrome.
Orsoni JG, Zavota L, Pellistri I, Piazza F, Cimino L
Cornea 2002 May;21(4):356-9. doi: 10.1097/00003226-200205000-00005. PMID: 11973382
Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
Pediatr Dermatol 1996 Mar-Apr;13(2):105-13. doi: 10.1111/j.1525-1470.1996.tb01414.x. PMID: 9122065

Therapy

Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K, Bignotti S, Callea M, Cammarata-Scalisi F, Steger B, Armstrong D, Lagan M, Sinton J, Semeraro F, Kaye SB, Romano V, Willoughby CE
Ophthalmic Genet 2024 Feb;45(1):16-22. Epub 2024 Jan 26 doi: 10.1080/13816810.2023.2258218. PMID: 37755702
Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?
Gelzinis A, Simonaviciute D, Krucaite A, Buzzonetti L, Dollfus H, Zemaitiene R
Medicina (Kaunas) 2022 May 13;58(5) doi: 10.3390/medicina58050657. PMID: 35630074Free PMC Article
Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Congenital Glaucoma and CHARGE Syndrome: A Case Report.
Benson MD, Jivraj I, Damji KF, Solarte CE
J Glaucoma 2017 Feb;26(2):e84-e86. doi: 10.1097/IJG.0000000000000555. PMID: 27661987
Cogan syndrome.
Orsoni JG, Zavota L, Pellistri I, Piazza F, Cimino L
Cornea 2002 May;21(4):356-9. doi: 10.1097/00003226-200205000-00005. PMID: 11973382

Prognosis

Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K, Bignotti S, Callea M, Cammarata-Scalisi F, Steger B, Armstrong D, Lagan M, Sinton J, Semeraro F, Kaye SB, Romano V, Willoughby CE
Ophthalmic Genet 2024 Feb;45(1):16-22. Epub 2024 Jan 26 doi: 10.1080/13816810.2023.2258218. PMID: 37755702
Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
Desir J, Abramowicz M
Orphanet J Rare Dis 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. PMID: 18922146Free PMC Article
Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease.
Vogler C, Sands MS, Galvin N, Levy B, Thorpe C, Barker J, Sly WS
J Inherit Metab Dis 1998 Aug;21(5):575-86. doi: 10.1023/a:1005423222927. PMID: 9728337
Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
Pediatr Dermatol 1996 Mar-Apr;13(2):105-13. doi: 10.1111/j.1525-1470.1996.tb01414.x. PMID: 9122065

Clinical prediction guides

Reduced Corneal Sensitivity With Neuronal Degeneration is a Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Bartosiewicz K, Studzian M, Pułaski Ł, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W
Am J Ophthalmol 2022 Apr;236:63-68. Epub 2021 Oct 26 doi: 10.1016/j.ajo.2021.09.030. PMID: 34710353
Corneal Abnormalities Are Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Braun M, Zielonka E, Ivask M, Koks S, Jurowski P, Młynarski W
Am J Ophthalmol 2020 Sep;217:140-151. Epub 2020 Apr 23 doi: 10.1016/j.ajo.2020.04.012. PMID: 32335055
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M
Cornea 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041. PMID: 24351571Free PMC Article
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.
Abramowicz MJ, Albuquerque-Silva J, Zanen A
J Med Genet 2002 Feb;39(2):110-2. doi: 10.1136/jmg.39.2.110. PMID: 11836359Free PMC Article
Familial pathologic myopia, corneal dystrophy, and deafness: a new syndrome.
Kurt E, Günen A, Sadikoğlu Y, Oztürk F, Tarhan S, Sari RA, Fistik T, Ari Z
Jpn J Ophthalmol 2001 Nov-Dec;45(6):612-7. doi: 10.1016/s0021-5155(01)00426-9. PMID: 11754903

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...