Name Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Synonyms SHORT-LIMB DWARFISM WITH SADDLE NOSE, SPINAL ALTERATIONS, AND METAPHYSEAL STRIATION , SPONASTRIME DYSPLASIA , SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES
Classification bone, developmental, genetic
Phenotypes Abnormality of the dentition; Anteverted nares; Arnold-Chiari malformation; Autosomal recessive inheritance; Biconcave vertebral bodies; Bulbous nose; Congenital hypothyroidism; Coxa vara; Decreased circulating IgG level; Delayed ossification of carpal bones; Delayed skeletal maturation; Depressed nasal bridge; Disproportionate short-limb short stature; Flat capital femoral epiphysis; Frontal bossing; Genu valgum; Genu varum; Hypertelorism; Intellectual disability; Intellectual disability, progressive; Kyphoscoliosis; Laryngotracheomalacia; Limited elbow extension; Lumbar hyperlordosis; Lumbar interpedicular narrowing; Malar flattening; Mandibular prognathia; Mesomelia; Metaphyseal irregularity; Metaphyseal striations; Midface retrusion; Neutropenia; Osteopenia; Platyspondyly; Posterior subcapsular cataract; Relative macrocephaly; Short dental roots; Short nose; Spondyloepimetaphyseal dysplasia; Subglottic stenosis; Thoracic kyphosis
Associated Genes TONSL (Withdrawn symbols: IKBR, NFKBIL2 )
Mouse Orthologs Tonsl (Withdrawn symbols: 2810439M11Rik, Nfkbil2 )
Source
OMIM:271510 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)