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Ehlers-danlos syndrome, arthrochalasia type, 2

MedGen UID:
977637
Concept ID:
CN293783
Disease or Syndrome
Synonym: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
 
Gene (location): COL1A2 (7q21.3)
 
Monarch Initiative: MONDO:0040501
OMIM®: 617821

Definition

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060. [from OMIM]

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