Spondyloepiphyseal dysplasia congenita

Preferred Label : Spondyloepiphyseal dysplasia congenita;

Symbol : SEDC;

CISMeF acronym : SEDC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondyloepiphyseal dysplasia, congenital type; Sed congenita;

Description : Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0001);

Prefixed ID : #183900;

Détails

Origin ID

183900;

UMLS CUI

C2745959;

Automatic exact mappings (from CISMeF team)
- COL2A1 wt Allele [NCIt concept]
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Spondyloepiphyseal dysplasia congenita [ACR pathology]
- osteochondrodysplasias [MeSH Descriptor]
- symbol withdrawn SEDC [HGNC gene]
Currated CISMeF NLP mapping
- Congenital spondyloepiphyseal dysplasia [ICD-11 More detail]
- Spondyloepiphyseal dysplasia congenita [MedDRA LLT]
- Spondyloepiphyseal dysplasia congenita [ORDO Disease]
- Spondyloepiphyseal dysplasia congenita (disorder) [Inactive SNOMED CT concept]
- Spondyloepiphyseal dysplasia congenita group (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, congenita [MeSH concept]
- spondyloepiphyseal dysplasia congenita [DO Concept]
- spondyloepiphyseal dysplasia congenita [Disease (Nov.)]
- spondyloepiphyseal dysplasia congenita [SNOMED Notion]
- spondyloepiphyseal dysplasia, congenita [MeSH Supplementary Concept]
DO Cross reference
- spondyloepiphyseal dysplasia congenita [DO Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Absent pubic ossification in infancy [HPO term]
- Arthralgia [HPO term]
- Atlantoaxial instability [HPO term]
- Autosomal dominant inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Bifid uvula [HPO term]
- Cervical myelopathy [HPO term]
- Cleft palate [HPO term]
- Coxa vara [HPO term]
- Delayed calcaneal ossification [HPO term]
- Delayed pubic bone ossification [HPO term]
- Flat face [HPO term]
- Flattened epiphysis [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hip dislocation [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypotonia [HPO term]
- Kyphosis [HPO term]
- Limitation of knee mobility [HPO term]
- Limited elbow movement [HPO term]
- Limited hip movement [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Myopia [HPO term]
- Neonatal short-trunk short stature [HPO term]
- Ovoid vertebral bodies [HPO term]
- Pectus carinatum [HPO term]
- Pierre-Robin sequence [HPO term]
- Platyspondyly [HPO term]
- Respiratory distress [HPO term]
- Restrictive ventilatory defect [HPO term]
- Retinal detachment [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Talipes equinovarus [HPO term]
- Vitreoretinopathy [HPO term]
- Waddling gait [HPO term]
- diminished joint mobility at elbows, knees, and hips [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia congenita [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital spondyloepiphyseal dysplasia [ICD-11 More detail]
- Spondyloepiphyseal dysplasia [ICD-10 Sub-category (who)]
- Spondyloepiphyseal dysplasia [MedDRA Preferred Term]
- Spondyloepiphyseal dysplasia [ICD-10 Sub-category]
- Spondyloepiphyseal dysplasia congenita [MedDRA LLT]
- Spondyloepiphyseal dysplasia congenita [ORDO Disease]
- Spondyloepiphyseal dysplasia congenita (disorder) [Inactive SNOMED CT concept]
- Spondyloepiphyseal dysplasia congenita group (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, congenita [MeSH concept]
- spondyloepiphyseal dysplasia congenita [SNOMED Notion]
- spondyloepiphyseal dysplasia congenita [DO Concept]
- spondyloepiphyseal dysplasia congenita [Disease (Nov.)]
- spondyloepiphyseal dysplasia, congenita [MeSH Supplementary Concept]

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