Orphanet: Absence of fingerprints congenital milia 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: *

Absence of fingerprints-congenital milia syndrome

Disease definition

A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.

ORPHA:1658

Classification level: Disorder

Synonym(s):
- Absence of dermatoglyphics-congenital milia syndrome
- Baird syndrome
- Basan-Baird syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Childhood
ICD-10: Q82.8
OMIM: 129200
UMLS: C0406707
MeSH: -
GARD: 2336
MedDRA: -

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Absence of fingerprints-congenital milia syndrome

ORPHA:1658

A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services