Ehlers-Danlos syndrome, dermatosparaxis type
Findings
No curated finding names Ehlers-Danlos syndrome, dermatosparaxis type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.
Definition from the Mondo Disease Ontology (MONDO:0009161), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
60 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.
- Blue scleraeHPOHP:0000592
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Bruising susceptibilityHPOHP:0000978
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Delayed closure of the anterior fontanelleHPOHP:0001476
- 4 of 4 reported patients
- Dermal translucencyHPOHP:0010648
- 3 of 3 reported patients
- EpicanthusHPOHP:0000286
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Fragile skinHPOHP:0001030
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 48
- Soft, doughy skinHPOHP:0001027
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Umbilical herniaHPOHP:0001537
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Wide anterior fontanelHPOHP:0000260
- 4 of 4 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 4 of 5 reported patients
- Occasional (5% to 29% of cases)
- Excessive wrinkled skinHPOHP:0007392
- Very frequent (80% to 99% of cases)
- Excessive wrinkling of palmar skinHPOHP:0007605
Genes
2 genes
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.
- ADAMTS2HGNC:218
- Definitive · Illumina · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- ADAMTSL2HGNC:14631
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: Ehlers-Danlos syndrome, dermatosparaxis type
- Also called
- EDS VIICEhlers-Danlos syndrome type 7C