Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
1p36.33
The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615349.1 | Saudi Arabia | Female | Yes | Yes | Multiple joint dislocation; Distal arthr... Multiple joint dislocation; Distal arthrogryposis; Aortic valve stenosis; Prominent forehead  | NM_080605.4:c.556T>C | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 615349.2 | Sudan | Yes | Yes | Short stature; Failure to thrive; Congen... Short stature; Failure to thrive; Congenital hip dislocation; Camptodactyly of finger; Monkey wrench femoral neck; Kyphoscoliosis; Talipes equinovarus; Malar flattening; Narrow mouth; Proptosis | NM_080605.4:c.845_846delinsTA | Homozygous | Autosomal, Recessive | Ranza et al. 2017 |