Desbuquois dysplasia 1

Preferred Label : Desbuquois dysplasia 1;

Symbol : DBQD1;

CISMeF acronym : DBQD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Desbuquois syndrome; Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification;

Included titles and symbols : Desbuquois dysplasia, kim variant;

Description : Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009). Desbuquois dysplasia is clinically and radiographically heterogeneous, and has been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, a delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium-activated nucleotidase 1 gene (CANT1, 613165.0001);

Prefixed ID : #251450;

Details

Origin ID

251450;

UMLS CUI

C4012146;

DO Cross reference
- Desbuquois dysplasia [DO Concept]
Genes related to phenotype
- Calcium-activated nucleotidase 1 [OMIM gene]
HPO term(s)
- Advanced ossification of carpal bones [HPO term]
- Advanced tarsal ossification [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid distal phalanx of the thumb [HPO term]
- Brachydactyly [HPO term]
- Broad femoral neck [HPO term]
- Broad first metatarsal [HPO term]
- Concave nasal ridge [HPO term]
- Coxa valga [HPO term]
- Coxa vara [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental glaucoma [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dwarfism [HPO term]
- Flat acetabular roof [HPO term]
- Flattened epiphysis [HPO term]
- Generalized hypotonia [HPO term]
- Genu varum [HPO term]
- Growth delay [HPO term]
- Hyperlordosis [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint dislocation [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Lordosis [HPO term]
- Malar flattening [HPO term]
- Medial deviation of the foot [HPO term]
- Metaphyseal widening [HPO term]
- Microretrognathia [HPO term]
- Midface retrusion [HPO term]
- Monkey wrench femoral neck [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow chest [HPO term]
- Narrow mouth [HPO term]
- Neonatal respiratory distress [HPO term]
- Obesity [HPO term]
- Osteoarthritis [HPO term]
- Osteoporosis [HPO term]
- Partial duplication of the distal phalanx of the hallux [HPO term]
- Pes planus [HPO term]
- Phalangeal dislocation [HPO term]
- Platyspondyly [HPO term]
- Proptosis [HPO term]
- Proximal fibular overgrowth [HPO term]
- Radial deviation of the 2nd finger [HPO term]
- Radioulnar dislocation [HPO term]
- Round face [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Short 1st metacarpal [HPO term]
- Short femoral neck [HPO term]
- Short limb dwarfism [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Smooth philtrum [HPO term]
- Talipes equinovarus [HPO term]
- Triangular shaped phalanges of the hand [HPO term]
- Variable expressivity [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Desbuquois syndrome [ORDO Disease]
See also inter- (CISMeF)
- CANT1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Desbuquois Dysplasia [NCIt concept]
- Desbuquois dysplasia [DO Concept]
- Desbuquois syndrome [Disease (Nov.)]
- Desbuquois syndrome [ICD-11 More detail]
- Desbuquois syndrome [MeSH concept]
- Desbuquois syndrome [ORDO Disease]
- Desbuquois syndrome (disorder) [SNOMED CT concept]
- desbuquois syndrome [MeSH Supplementary Concept]

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