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/ [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
7q21.3
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/ [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617821.1 | Lebanon | Male | No | No | Joint hypermobility; Hip dislocation; Hy... Joint hypermobility; Hip dislocation; Hyperextensible skin; Atypical scarring of skin  | NM_000089.4:c.279+1G>A | Heterozygous | Autosomal, Dominant | Lehmann et al. 1994 |