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.

Click here to know more about Mendelian.

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 more

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

If 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