Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Preferred Label : Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures;

Symbol : SEMDJL1;

CISMeF acronym : SEMDJL; SEMDJL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SEMDJL;

Description : Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6 gene (B3GALT6, 615291.0001);

Prefixed ID : #271640;

Details

Origin ID

271640;

UMLS CUI

C4017377;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia with joint laxity [ORDO Disease]
- spondyloepimetaphyseal dysplasia with joint laxity [MeSH Supplementary Concept]
Genes related to phenotype
- Beta-1,3-galactosyltransferase 6 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormal rib cage morphology [HPO term]
- Advanced ossification of carpal bones [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Blue sclerae [HPO term]
- Broad distal phalanx of finger [HPO term]
- Carpal synostosis [HPO term]
- Cleft palate [HPO term]
- Coxa valga [HPO term]
- Cupped ribs [HPO term]
- Decreased body weight [HPO term]
- Delayed proximal femoral epiphyseal ossification [HPO term]
- Dislocated radial head [HPO term]
- Dwarfism [HPO term]
- Ectopia lentis [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flared iliac wing [HPO term]
- Flared metaphysis [HPO term]
- Flaring of rib cage [HPO term]
- Flat face [HPO term]
- Flexion contracture [HPO term]
- Fragile skin [HPO term]
- Generalized hypotonia [HPO term]
- Genu valgum [HPO term]
- Hallux valgus [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hip subluxation [HPO term]
- Hyperextensible skin [HPO term]
- Hypoplastic iliac body [HPO term]
- Hypotonia [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Large iliac wing [HPO term]
- Lens dislocation [HPO term]
- Long philtrum [HPO term]
- Long upper lip [HPO term]
- Malar flattening [HPO term]
- Metaphyseal widening [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Mild skin hyperextensibility [HPO term]
- Mitral regurgitation [HPO term]
- Myopia [HPO term]
- Osteoporosis [HPO term]
- Oval face [HPO term]
- Ovoid vertebral bodies [HPO term]
- Paraplegia [HPO term]
- Pathologic fracture [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Prominent eyes [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Radial bowing [HPO term]
- Radial head subluxation [HPO term]
- Severe short stature [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short nail [HPO term]
- Short neck [HPO term]
- Slender long bone [HPO term]
- Soft, doughy skin [HPO term]
- Sparse scalp hair [HPO term]
- Spinal cord compression [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Talipes equinovarus [HPO term]
- Ventricular septal defect [HPO term]
- short, slender long bones [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia with joint laxity [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia - joint laxity [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia with joint laxity [ORDO Disease]
- Spondyloepimetaphyseal dysplasia with joint laxity (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia with joint laxity [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia with joint laxity [MeSH concept]
Validated automatic mappings to NTBT
- Spondyloepimetaphyseal dysplasia - joint laxity [ICD-11 More detail]

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