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Ehlers-Danlos syndrome, kyphoscoliotic type 1
rareA form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
- Identifiers
- MONDO:0016002 OMIM:225400Orphanet:1900
- Causal genes
- PLOD1
- Part of
- Autosomal recessive diseaseEye disorderHereditary disorder of connective tissueKyphoscoliotic Ehlers-Danlos syndrome
- Also known as
- EDS 6 · EDS 6 (formerly) · EDS VI · EDS6 · EDS6A, formerly
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