absence of fingerprints-congenital milia syndrome
Findings
No curated finding names absence of fingerprints-congenital milia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007507), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AdermatoglyphiaHPOHP:0007455
- 15 of 15 reported patients · Congenital onset
- Flexion contracture of digitHPOHP:0030044
- 8 of 8 reported patients
- MiliaHPOHP:0001056
- 8 of 8 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Palmoplantar hypohidrosisHPOHP:0034012
- 3 of 6 reported patients · Adult onset
- 8 of 8 reported patients
- Knuckle padHPOHP:0032541
- 7 of 8 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SMARCAD1HGNC:18398
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: absence of fingerprints-congenital milia syndrome
- Also called
- absence of dermatoglyphics-congenital milia syndromeBaird syndrome