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Ehlers-Danlos syndrome musculocontractural type

Genetics: - associated with defects in CHST14 Clinical manifestations: - distinctive craniofacial dysmorphism - congenital contractures of thumbs & fingers - clubfeet - severe kyphoscoliosis - muscular hypotonia - hyperextensible thin skin with easy bruisability & atrophic scarring - wrinkled palms - joint hypermobility - ocular involvement

Database Correlations

OMIM 601776

References

  1. OMIM :accession 601776
  2. UniProt :accession Q8NCH0