Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present. Disease data Klasyfikacja Disease Synonimy Spondyloepimetaphyseal dysplasia, Menger type Spondyloepimetaphyseal dysplasia, anauxetic type Spondyloepimetaphyseal dysplasia, Menger type Spondyloepimetaphyseal dysplasia, anauxetic type Kod ORPHA 93347 Kod OMIM 617396 Kod ICD10 Q77.7 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl