Spondylometaepiphyseal dysplasia, short limb-hand type

Preferred Label : Spondylometaepiphyseal dysplasia, short limb-hand type;

CISMeF acronym : SMED-SL/AC; SMED-SL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Smed, short limb-hand type; Smed, type II; SMED-SL; Spondylometaepiphyseal dysplasia, short limb-abnormal calcification type; Smed, short limb-abnormal calcification type; SMED-SL/AC;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the discoidin domain receptor family, member 2 gene (DDR2, 191311.0001);

Prefixed ID : #271665;

Details

Origin ID

271665;

UMLS CUI

C1849011;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ORDO Disease]
- spondylometaepiphyseal dysplasia, short Limb-Hand type [MeSH concept]
- spondylometaepiphyseal dysplasia, short Limb-Hand type [MeSH Supplementary Concept]
Genes related to phenotype
- Discoidin domain receptor family, member 2 [OMIM gene]
HPO term(s)
- Abnormal calcification of the carpal bones [HPO term]
- Abnormality of the neck [HPO term]
- Anterior rib cupping [HPO term]
- Atlantoaxial instability [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Bowing of the legs [HPO term]
- Broad long bones [HPO term]
- Broad metacarpals [HPO term]
- Broad phalanx [HPO term]
- C1-C2 subluxation [HPO term]
- Calcification of falx cerebri [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dwarfism [HPO term]
- Elbow flexion contracture [HPO term]
- Epiphyseal stippling [HPO term]
- Flared iliac wing [HPO term]
- Flared metaphysis [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip subluxation [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypotonia [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Long fibula [HPO term]
- Malar flattening [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Midface retrusion [HPO term]
- Pectus excavatum [HPO term]
- Platyspondyly [HPO term]
- Posterior rib cupping [HPO term]
- Progressive calcification of costochondral cartilage [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Recurrent pneumonia [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Short limb dwarfism [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short nose [HPO term]
- Short phalanx of finger [HPO term]
- Short ribs [HPO term]
- Short, broad metacarpals [HPO term]
- Short, wide phalanges [HPO term]
- Spinal cord compression [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Syringomyelia [HPO term]
- Thoracic hypoplasia [HPO term]
- Tracheal calcification [HPO term]
- Triangular shaped distal phalanges of the hand [HPO term]
- short, broad tubular bones [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ORDO Disease]
- spondylometaepiphyseal dysplasia, short Limb-Hand type [MeSH Supplementary Concept]
- spondylometaepiphyseal dysplasia, short Limb-Hand type [MeSH concept]
- spondylometaepiphyseal dysplasia, short limb-hand type [DO Concept]

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