Basan Syndrome
Description
Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).
Clinical Features
Top most frequent phenotypes and symptoms related to Basan Syndrome
- Flexion contracture
- Syndactyly
- Clinodactyly
- Hyperhidrosis
- Hyperkeratosis
- Camptodactyly
- Scarring
- Skin rash
- Papule
- Nail dystrophy
And another 21 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Basan Syndrome Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease, adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Basan Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
SMARCAD1.
By Fulgent Genetics Fulgent Genetics (United States).
SMARCAD1
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF