Spondyloepiphyseal dysplasia with congenital joint dislocations

Preferred Label : Spondyloepiphyseal dysplasia with congenital joint dislocations;

Symbol : SEDCJD;

CISMeF acronym : CDMD; HSD; SEDCJD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondyloepiphyseal dysplasia, omani type; Chondrodysplasia with multiple dislocations; CDMD; Humerospinal dysostosis; HSD;

Description : Although patients with mutations in the CHST3 gene may initially be given varying diagnostic labels, they have similar clinical features, including dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture, and affected individuals may receive an initial clinical diagnosis of Larsen syndrome (see 245600) or humerospinal dysostosis. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia (SED) become apparent, leading to arthritis of the hips and spine with intervertebral disc degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood; at this stage, the clinical features are those previously described as the Omani type of SED (summary by Unger et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carbohydrate sulfotransferase 3 gene (CHST3, 603799.0001);

Prefixed ID : #143095;

Details

Origin ID

143095;

UMLS CUI

C1837657;

Automatic exact mappings (from CISMeF team)
- CHST3 wt Allele [NCIt concept]
- CHST3-related skeletal dysplasia [ORDO Disease]
- Kozlowski Celermajer Tink syndrome [MeSH concept]
- hematoma, subdural [MeSH Descriptor]
Currated CISMeF NLP mapping
- Humerospinal dysostosis [ORDO Disease]
- Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Omani type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, Omani type [MeSH concept]
- Spondyloepiphyseal dysplasia, Omani type [ORDO Disease]
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]
- spondyloepiphyseal dysplasia, omani type [MeSH Supplementary Concept]
DO Cross reference
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]
Genes related to phenotype
- Carbohydrate sulfotransferase 3 [OMIM gene]
HPO term(s)
- Aortic regurgitation [HPO term]
- Aortic valve stenosis [HPO term]
- Arthralgia [HPO term]
- Arthropathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Bilateral single transverse palmar creases [HPO term]
- Brachydactyly [HPO term]
- Broad forehead [HPO term]
- Camptodactyly of finger [HPO term]
- Coronal cleft vertebrae [HPO term]
- Cubitus valgus [HPO term]
- Decreased hip abduction [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed gross motor development [HPO term]
- Delayed skeletal maturation [HPO term]
- Deviation of the 5th finger [HPO term]
- Elbow dislocation [HPO term]
- Fixed elbow flexion [HPO term]
- Flattened epiphysis [HPO term]
- Flexion contracture [HPO term]
- Generalized bone demineralization [HPO term]
- Genu valgum [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Hypoplasia of the ulna [HPO term]
- Intervertebral space narrowing [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint dislocation [HPO term]
- Knee dislocation [HPO term]
- Kyphoscoliosis [HPO term]
- Kyphosis [HPO term]
- Limited hip extension [HPO term]
- Long philtrum [HPO term]
- Lumbar hyperlordosis [HPO term]
- Microdontia [HPO term]
- Microtia [HPO term]
- Mitral regurgitation [HPO term]
- Mitral stenosis [HPO term]
- Multiple carpal ossification centers [HPO term]
- Narrow vertebral interpedicular distance [HPO term]
- Pes planus [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonic stenosis [HPO term]
- Rhizomelia [HPO term]
- Scoliosis [HPO term]
- Shield chest [HPO term]
- Short distal phalanx of finger [HPO term]
- Short femoral neck [HPO term]
- Short humeri [HPO term]
- Short metacarpal [HPO term]
- Short neck [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Shoulder dislocation [HPO term]
- Small epiphyses [HPO term]
- Sparse and thin eyebrow [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Talipes equinovarus [HPO term]
- Tibial bowing [HPO term]
- Tricuspid regurgitation [HPO term]
- Tricuspid stenosis [HPO term]
- Ulnar bowing [HPO term]
- Ventricular hypertrophy [HPO term]
- Ventricular septal defect [HPO term]
- Waddling gait [HPO term]
- Wide intermamillary distance [HPO term]
- Widely spaced teeth [HPO term]
Matching ORDO disease(s)
- Humerospinal dysostosis [ORDO Disease]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- CHST3-related skeletal dysplasia [ORDO Disease]
- Spondyloepiphyseal dysplasia, Omani type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) [SNOMED CT concept]
- Humerospinal dysostosis [ORDO Disease]
- Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Omani type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Omani type [MeSH concept]
- Spondyloepiphyseal dysplasia, Omani type [ICD-11 More detail]
- spondyloepiphyseal dysplasia with congenital joint dislocations [DO Concept]
- spondyloepiphyseal dysplasia, omani type [MeSH Supplementary Concept]

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