Desbuquois syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Desbuquois dysplasia |
| Number of Symptoms | 74 |
| OrphanetNr: | 1425 |
| OMIM Id: |
251450
300881 |
| ICD-10: |
Q78.8 |
| UMLs: |
C0432242 |
| MeSH: |
C535943 |
| MedDRA: |
|
| Snomed: |
254099008 |
Prevalence, inheritance and age of onset:
| Prevalence: | > 40 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Malformation syndrome with connective tissue involvement
-Rare developmental defect during embryogenesis -Rare genetic disease Primary bone dysplasia with multiple joint dislocations -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
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(HPO:0000499) | Abnormality of the eyelashes | Frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
|
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(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
|
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(HPO:0000308) | Microretrognathia | 78 / 7739 | ||||
|
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
|
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
|
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(HPO:0000520) | Proptosis | Very frequent [Orphanet] | 192 / 7739 | |||
|
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
|
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(HPO:0000311) | Round face | 104 / 7739 | ||||
|
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
|
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(HPO:0000501) | Glaucoma | Very frequent [Orphanet] | 180 / 7739 | |||
|
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(HPO:0001087) | Congenital glaucoma | 12 / 7739 | ||||
|
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
|
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(HPO:0000592) | Blue sclerae | Frequent [Orphanet] | 85 / 7739 | |||
|
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
|
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
|
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(HPO:0002515) | Waddling gait | 56 / 7739 | ||||
|
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
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(HPO:0003071) | Flattened epiphysis | 14 / 7739 | ||||
|
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(HPO:0002999) | Patellar dislocation | Very frequent [Orphanet] | 46 / 7739 | |||
|
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(HPO:0009611) | Bifid distal phalanx of the thumb | 15 / 7739 | ||||
|
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(HPO:0000774) | Narrow chest | 167 / 7739 | ||||
|
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
|
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(HPO:0002974) | Radioulnar synostosis | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0006439) | Radioulnar dislocation | 3 / 7739 | ||||
|
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(HPO:0008108) | Advanced tarsal ossification | 4 / 7739 | ||||
|
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(HPO:0010743) | Short metatarsal | 56 / 7739 | ||||
|
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(HPO:0003180) | Flat acetabular roof | 25 / 7739 | ||||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0002970) | Genu varum | 60 / 7739 | ||||
|
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(HPO:0001591) | Bell-shaped thorax | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0003016) | Metaphyseal widening | 41 / 7739 | ||||
|
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(HPO:0002816) | Genu recurvatum | Frequent [Orphanet] | 30 / 7739 | |||
|
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
|
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(HPO:0003307) | Hyperlordosis | 122 / 7739 | ||||
|
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(HPO:0008082) | Medial deviation of the foot | 2 / 7739 | ||||
|
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
|
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
|
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(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
|
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(HPO:0002758) | Osteoarthritis | 78 / 7739 | ||||
|
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(HPO:0004233) | Advanced ossification of carpal bones | 14 / 7739 | ||||
|
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(HPO:0200055) | Small hand | Frequent [Orphanet] | 71 / 7739 | |||
|
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(HPO:0001385) | Hip dysplasia | Frequent [Orphanet] | 242 / 7739 | |||
|
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
|
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(HPO:0002823) | Abnormality of the femur | Very frequent [Orphanet] | 61 / 7739 | |||
|
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(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
|
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(HPO:0001852) | Sandal gap | 63 / 7739 | ||||
|
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
|
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(HPO:0006429) | Broad femoral neck | 18 / 7739 | ||||
|
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(HPO:0003042) | Elbow dislocation | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0100864) | Short femoral neck | 36 / 7739 | ||||
|
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
|
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(HPO:0010034) | Short 1st metacarpal | 19 / 7739 | ||||
|
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
|
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(HPO:0006243) | Phalangeal dislocation | 3 / 7739 | ||||
|
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(HPO:0002673) | Coxa valga | 57 / 7739 | ||||
|
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(HPO:0010068) | Broad first metatarsal | 3 / 7739 | ||||
|
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(HPO:0005616) | Accelerated skeletal maturation | Very frequent [Orphanet] | 46 / 7739 | |||
|
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(HPO:0010097) | Partial duplication of the distal phalanx of the hallux | 2 / 7739 | ||||
|
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(HPO:0002808) | Kyphosis | 289 / 7739 | ||||
|
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(HPO:0005067) | Proximal fibular overgrowth | 3 / 7739 | ||||
|
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0008873) | Disproportionate short-limb short stature | 39 / 7739 | ||||
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(HPO:0001513) | Obesity | 172 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
|
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|