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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): Gene(s) directly associated with this condition or phenotype.	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

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Abnormality of the eye
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCorneal dystrophy-perceptive deafness syndrome

Abnormality of the eye
- Abnormal eye morphology
  - Abnormal anterior eye segment morphology
    - Abnormal cornea morphology
      - Corneal dystrophy
        Syndromic corneal dystrophy
        Corneal 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: 23642083 Free PMC Article

See all (1)

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.

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

See all (21)

Diagnosis

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

Harboyan Syndrome.

Javaid A, Orakzai AA
J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(Suppl 1)(4):S701-S703. PMID: 33754535

Ocular manifestations of genetic skin disorders.

Jen M, Nallasamy S
Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2 doi: 10.1016/j.clindermatol.2015.11.008. PMID: 26903188

Brittle cornea syndrome: recognition, molecular diagnosis and management.

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

See all (69)

Therapy

Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.

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: 32787478 Free 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

Keratoprosthesis in pediatric keratitis-icthyosiform-deafness syndrome.

Brown C, Rowlands M, Lee D, Geffin JA, Huang J
J AAPOS 2016 Feb;20(1):73-5. doi: 10.1016/j.jaapos.2015.09.009. PMID: 26917078

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

See all (18)

Prognosis

Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

Firasat S, Dur-E-Shawar, Khan WA, Sughra U, Nousheen, Kaul H, Naz S, Noreen B, Gul R, Afshan K
Mol Biol Rep 2021 Nov;48(11):7467-7476. Epub 2021 Oct 12 doi: 10.1007/s11033-021-06765-4. PMID: 34637099

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: 32787478 Free 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: 18922146 Free PMC Article

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

See all (15)

Clinical prediction guides

Reduced Corneal Sensitivity With Neuronal Degeneration is a Novel Clinical Feature in Wolfram Syndrome.

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: 24351571 Free 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: 11836359 Free 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

See all (21)

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Corneal dystrophy-perceptive deafness syndrome(CDPD)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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