Table 1.
Location | Gene locus | Inheritance | Phenotype | Clinical Synopsis (skeletal) |
---|---|---|---|---|
17q22 | Noggin | Autosomal dominant | Proximal symphalangism 1A | Joint fusion Proximal interphalangeal joint synostoses Distal interphalangeal joint synostoses (occasional) Carpal and tarsal bone fusion |
20q11.22 | Gdf5, CDMP1, SYNS2, OS5,BDA1C, SYM1b | Autosomal dominant | Proximal symphalangism 1B | Joint fusion Distal interphalangeal joint fusions Flat feet Absence of the cuboid bone Bone fusion (proximal/middle phalanges) |
3p24.1 | Tgfbr2 | Loeys-Dietz syndrome type 2 (formerly, Marfan syndrome type 2) | Joint laxity Osteoporosis (some patients) Low-impact fractures Arachnodactyly Camptodactyly Brachydactyly Contractures |
|
1p13-p11 | Notch2 | Autosomal dominant | Hajdu-Cheney syndrome | Joint laxity Short stature Osteopenia Osteoporosis Pathologic fractures Acroosteolysis |
8q12.1 | Jaws/Impad1 | Autosomal recessive | Chondrodysplasia with joint dislocations, GRAPP type | Joint dislocations Shortening and deformity of the limbs Brachydactyly Longitudinal splitting of the proximal phalanx of forefinger Splitting of the first metacarpal in two parts Short stature |
8q24.11 | Ext1 | Autosomal dominant | Multiple cartilaginous exostoses, type 1 | Cartilaginous protuberances at ends of long bones Short metacarpal Exostoses in juxtaepiphyseal regions of long bones Genu valgum Madelung-like forearm deformities Bilateral overriding of single toes |
3q13.33 | Hgd | Autosomal recessive | Alkaptonuria (AKU) | Ochronotic pigmentation of connective tissue Ochronotic arthritis Ochronotic arthropathy Chronic joint pain Degeneration of intervertebral disks Fusion of vertebral bodies |