Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects

Preferred Label : Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects;

Symbol : JDSCD;

CISMeF acronym : JDSCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Larsen syndrome, autosomal recessive;

Description : This autosomal recessive phenotype consists of dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects (summary by Bonaventure et al., 1992). Phenotypic similarities have been noted between this syndrome and Larsen syndrome (150250), an autosomal dominant disorder caused by mutation in the FLNB gene (603381), as well as spondyloepiphyseal dysplasia with congenital joint dislocations (143095), an autosomal recessive disorder caused by mutation in the CHST3 gene (603799) (Bonaventure et al., 1992; Baasanjav et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-1,3-glucuronyltransferase 3 gene (B3GAT3, 606374.0001);

Prefixed ID : #245600;

Details

Origin ID

245600;

UMLS CUI

C3278404;

Automatic exact mappings (from CISMeF team)
- CHST3-related skeletal dysplasia [ORDO Disease]
- Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Larsen syndrome, recessive type [MeSH concept]
- Larsen-like syndrome, B3GAT3 type [ORDO Disease]
- larsen syndrome, recessive type [MeSH Supplementary Concept]
DO Cross reference
- Larsen-like syndrome B3GAT3 type [DO Concept]
Genes related to phenotype
- Beta-1,3-glucuronyltransferase 3 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormality of the abdominal wall [HPO term]
- Abnormally large globe [HPO term]
- Accelerated skeletal maturation [HPO term]
- Amblyopia [HPO term]
- Aortic root aneurysm [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bilateral elbow dislocations [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Broad distal phalanges of all fingers [HPO term]
- Broad forehead [HPO term]
- Cardiomegaly [HPO term]
- Cleft palate [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Craniosynostosis [HPO term]
- Cutis laxa [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental glaucoma [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow flexion contracture [HPO term]
- Enlarged metaphyses [HPO term]
- Esotropia [HPO term]
- Flared metaphysis [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Generalized osteoporosis [HPO term]
- Genu valgum [HPO term]
- Hallux valgus [HPO term]
- Hip dislocation [HPO term]
- Hydrocephalus [HPO term]
- Hyperextensible skin [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Joint hypermobility [HPO term]
- Knee dislocation [HPO term]
- Left ventricular hypertrophy [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Metacarpophalangeal joint hyperextensibility [HPO term]
- Metatarsus adductus [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Microretrognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Mitral valve prolapse [HPO term]
- Motor delay [HPO term]
- Multiple joint dislocation [HPO term]
- Narrow chest [HPO term]
- Narrow mouth [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Patent foramen ovale [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Prominent antitragus [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Recurrent fractures [HPO term]
- Rhizomelia [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Shoulder dislocation [HPO term]
- Small face [HPO term]
- Spatulate thumbs [HPO term]
- Talipes equinovalgus [HPO term]
- Talipes equinovarus [HPO term]
- Thick eyebrow [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Larsen-like syndrome, B3GAT3 type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Larsen-like syndrome, B3GAT3 type [ORDO Disease]

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