Boomerang dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 35 |
| OrphanetNr: | 1263 |
| OMIM Id: |
112310
|
| ICD-10: |
Q87.1 |
| UMLs: |
C0432201 |
| MeSH: |
C536573 |
| MedDRA: |
|
| Snomed: |
254054000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 10 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Filamin-related bone disorder
-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:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0005104) | Hypoplastic nasal septum | 3 / 7739 | ||||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0008905) | Rhizomelia | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0004599) | Absent or minimally ossified vertebral bodies | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0003063) | Abnormality of the humerus | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0003974) | Absent radius | 26 / 7739 | ||||
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(HPO:0008824) | Hypoplastic iliac body | 3 / 7739 | ||||
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(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0002991) | Abnormality of the fibula | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0011849) | Abnormal bone ossification | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0002823) | Abnormality of the femur | Frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0002990) | Fibular aplasia | 16 / 7739 | ||||
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(HPO:0001789) | Hydrops fetalis | Frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0001561) | Polyhydramnios | Frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001539) | Omphalocele | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Frequent [Orphanet] | 79 / 7739 | |||
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(OMIM) | Retarded ossification of lower spine and digits | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Hypoplastic nares and septum | 1 / 7739 | ||||
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(OMIM) | Congential dwarfism | 1 / 7739 | ||||
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(OMIM) | Absent radii and fibulae with boomerang shaped remaining long bones | 1 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0003811) | Neonatal death | 44 / 7739 | ||||
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(OMIM) | Short, bowed, rigid limbs | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Molecular genetics OMIM |
In a 22-week male fetus previously studied by Krakow et al. (2004) and a 17-week male fetus previously described by Wessels et al. (2003), both diagnosed with boomerang dysplasia, Bicknell et al. (2005) identified heterozygosity for mutations in ... |