Orphanet: Distal deletion 6p

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Distal deletion 6p

Disease definition

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.

ORPHA:96125

Classification level: Disorder

Synonym(s):
- 6p subtelomeric deletion syndrome
- 6p25 microdeletion syndrome
- Distal deletion 6p25
- Monosomy 6p25
- Monosomy 6pter
Prevalence: <1 / 1 000 000
Inheritance: Not applicable or Unknown
Age of onset: Infancy, Neonatal
ICD-10: Q93.5
ICD-11: LD44.61
OMIM: 612582
UMLS: C4305276
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

Pure deletions have been described in less than 10 patients.

Clinical description

Ocular abnormalities mainly affect the anterior chamber of the eye. Dysmorphic features include hypertelorism, broad forehead, down-slanting palpebral fissures, low-set ears, midface hypoplasia, and micrognathia. Intellectual deficit is variable in severity.

Etiology

Breakpoints are within 6p24-pter subtelomeric bands and microdeletions are detected by specific subtelomeric probes or comparative genomic hybridization (array-CGH).

Expert reviewer(s): Dr Nicole MORICHON-DELVALLEZ - Last update: December 2010

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Distal deletion 6p

ORPHA:96125

Summary

Epidemiology

Clinical description

Etiology

A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

General public

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services