spondyloepiphyseal dysplasia tarda, X-linked
X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.
MONDO:0000425
X-linked disease
is_a
MONDO:0019667
spondyloepiphyseal dysplasia tarda
is_a
SED
related
SEDT
related
X linked spondyloepiphyseal dysplasia tarda
related
X-linked spondyloepiphyseal dysplasia
related
spondyloepiphyseal dysplasia tarda X-linked
related
spondyloepiphyseal dysplasia tarda, X-linked
exact
spondyloepiphyseal dysplasia tarda, X-linked recessive
exact
SPBC11G11.04