Gene | Disorder | MOI | Features of Disorder |
|---|
ATP7A | Menkes disease (See ATP7A-Related Copper Transport Disorders.) | XL | Short stature |
CFAP410 | CFAP410-related axial spondylometaphyseal dysplasia (OMIM 602271) | AR | Short stature, short limbs; Platyspondyly, coxa vara, metaphyseal dysplasia, short metacarpals |
Schmid metaphyseal chondrodysplasia | AD | Short stature; Platyspondyly, corner fracture-like lesions, metaphyseal abnormalities, coxa vara, genu varum | End plate irregularities, metaphyseal abnormalities of phalanges metacarpals GALNS |
Mucopolysaccharidosis type IVA | AR | Short stature, scoliosis, short trunk, pectus carinatum, joint pain, normal intelligence | Coarse facial features, corneal opacities, hearing loss, hepatomegaly, hypermobile joints, abnormal glycosaminoglycan excretion in urine; Cervical subluxation, rib abnormalities, compression of spinal cord, epiphyseal involvement, coxa valga, hip dislocation, ulnar deviation of wrists |
PCYT1A | PCYT1A-related spondylometaphyseal dysplasia w/cone-rod dystrophy (OMIM 608940) | AR | Short stature, scoliosis, short limbs; Ovoid vertebral bodies, platyspondyly, coxa vara, metaphyseal involvement, tibial femoral bowing |
PTH1R-related metaphyseal chondrodysplasia, Jansen type | AD | Short stature, facial dysmorphism; Corner fracture-like lesions, osteopenia | Choanal stenosis, deafness, nephrocalcinosis, hypercalcemia, hypophosphatemia SBDS(EFL1DNAJC21SRP54)2 |
Shwachman-Diamond syndrome | AR3 | 50% of affected children are below 3rd centile for height.; Ovoid vertebral bodies, coxa vara, metaphyseal dysplasia of long bones, osteoporosis | Small head circumference, poor weight gain, exocrine pancreatic deficiency, bone marrow failure, cognitiv... |
