Details of Disease

General Information of Disease (ID: DIS3FVC0)

• Disease Name: Absence of fingerprints-congenital milia syndrome
• Synonyms: ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease; absence of fingerprints congenital milia; absence of dermatoglyphics congenital milia; adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities; Basan syndrome; Baird syndrome; absence of dermatoglyphics-congenital milia syndrome
• Definition: Absence of fingerprints-congenital milia syndrome is 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.
• Disease Hierarchy:
  DISIDQ39: Epidermal disease
  DISSCALK: Hereditary skin disorder
  DIS3FVC0: Absence of fingerprints-congenital milia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007507
  MESH ID: C537659
  UMLS CUI: C0406707
  OMIM ID: 129200
  MedGen ID: 140808
  Orphanet ID: 1658
  SNOMED CT ID: 239011004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMARCAD1	OT90AZTX	Supportive	Autosomal dominant	[1]

References

• [1] Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. Eur J Hum Genet. 2016 Aug;24(9):1367-70. doi: 10.1038/ejhg.2016.15. Epub 2016 Mar 2.