Види остеохондродиспластичної карликовості
Disorder | Symptoms and Signs | Usual Mode of Inheritance | Defective Gene Product |
|---|---|---|---|
Achondroplasia | Bulky forehead, saddle nose, lumbar lordosis, bowlegs | Fibroblast growth factor receptor 3 (FGFR) | |
Chondrodysplasia punctata | Variable extraskeletal manifestations X-rays show epiphyseal stippling in infancy due to calcifications | See below | See below |
Chondrodysplasia punctata (rhizomelic form) | Marked proximal limb shortening Death during infancy | Peroxisomal type 2 targeting signal receptor (PTS2) | |
Chondrodysplasia punctata (Conradi-Hünermann form) | Mild, asymmetric limb shortening Benign | AD or XL dominant | Delta(8)-delta(7)-sterol isomerase emopamil-binding protein (EBP) |
Chondroectodermal dysplasia (Ellis-van Creveld [EVC] syndrome) | Distal limb shortening, postaxial polydactyly, structural cardiac defects | EVC, EVC2 | |
Diastrophic dysplasia | Severe dwarfism with rigid hitchhiker thumb and fixed talipes equinovarum | Solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) | |
Hypochondroplasia | Symptoms of achondroplasia but milder | Fibroblast growth factor receptor 3 (FGFR3—not all patients) | |
Mesomelic dysplasia* (Langer type) | Predominantly, shortening of the forearms and shanks Normal facies and spine | Short stature homeobox (SHOX), short stature homeobox Y-linked (SHOXY) | |
Metaphyseal chondrodysplasia† | In some forms, malabsorption, neutropenia, thymolymphopenia | Parathyroid hormone receptor (PTHR), type X collagen (COL10A1) | |
Multiple epiphyseal dysplasia | Mild dwarfism, normal spine and facies, sometimes stubby digits, hip dysplasia (often as 1st symptom) Very heterogeneous | Solute carrier family 26 (sulfate transporter), member 2 (SLC26A2; AR form) | |
Pseudoachondroplasia | Normal facies, various degrees of dwarfism and kyphoscoliosis Heterogeneous | Cartilage oligomeric matrix protein (COMP) | |
Spondyloepiphyseal dysplasia | Predominantly, kyphoscoliosis Sometimes myopia and a flat facies Heterogeneous | AD, AR, or XL recessive | Type II collagen (COL2A1), tracking protein particle complex, subunit 2 (TRAPPC2, also known as SEDL) |
* There are several eponymous forms (eg, Nievergelt, Langer). | |||
† There are many different eponymous forms (eg, Jansen, Schmid, McKusick). | |||
AD = autosomal dominant; AR = autosomal recessive; XL = X-linked. | |||