Ehlers-Danlos syndrome musculocontractural type 1

Term ID

DOID:0080736

Synonyms

Definition

An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. https://pubmed.ncbi.nlm.nih.gov/28306229/

References

• MIM:601776

Ontology

Human Disease   ( DOID:0080736 )