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A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Ehlers-Danlos syndrome, spondylodysplastic type.
3 publications have been identified in PubMed for Ehlers-Danlos syndrome, spondylodysplastic type. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).
Weidler S (2026). [PMID: 41316887](https://pubmed.ncbi.nlm.nih.gov/41316887/). *Angew Chem Int Ed Engl*. [Basic Science / Preclinical]
Lan S (2025). [PMID: 41811047](https://pubmed.ncbi.nlm.nih.gov/41811047/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Yoshigai E (2025). [PMID: 40097560](https://pubmed.ncbi.nlm.nih.gov/40097560/). *Sci Rep*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:41 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Ehlers-Danlos syndrome, spondylodysplastic type