Orphanet: Craniosynostosis anal anomalies porokeratosis syndrome

(*) 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: *

Craniosynostosis-anal anomalies-porokeratosis syndrome

Disease definition

Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).

ORPHA:85199

Classification level: Disorder

Synonym(s):
- CAP syndrome
- CDAGS syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 603116
UMLS: C1864186
MeSH: C536789
GARD: 9506
MedDRA: -

Summary

Epidemiology

It has been described in seven patients from four unrelated families.

Clinical description

Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanels and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis (a disorder of keratinization). Sensorineural hearing loss and mild to severe developmental delay are common.

Genetic counseling

The condition is transmitted as an autosomal recessive trait.

- Last update: October 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

Craniosynostosis-anal anomalies-porokeratosis syndrome

ORPHA:85199

Summary

Epidemiology

Clinical description

Genetic counseling

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

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services