Brachydactyly type A6
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BRACHYMESOPHALANGY WITH MESOMELIC SHORT LIMBS AND CARPAL AND TARSAL OSSEOUS ABNORMALITIES BDA6 osebold-remondini syndrome |
| Number of Symptoms | 26 |
| OrphanetNr: | 93382 |
| OMIM Id: |
112910
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| ICD-10: |
Q73.8 |
| UMLs: |
C1862130 |
| MeSH: |
C537092 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Acromesomelic dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndrome with brachydactyly -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0002984) | Hypoplasia of the radius | 44 / 7739 | ||||
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(HPO:0001500) | Broad finger | 9 / 7739 | ||||
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(HPO:0008127) | Bipartite calcaneus | 4 / 7739 | ||||
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(HPO:0003027) | Mesomelia | 58 / 7739 | ||||
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(HPO:0000925) | Abnormality of the vertebral column | 20 / 7739 | ||||
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(HPO:0009702) | Carpal synostosis | 26 / 7739 | ||||
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(HPO:0009370) | Type A brachydactyly | 4 / 7739 | ||||
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(HPO:0009466) | Radial deviation of finger | 101 / 7739 | ||||
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(HPO:0005736) | Short tibia | 19 / 7739 | ||||
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(HPO:0001837) | Broad toe | 13 / 7739 | ||||
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(HPO:0001831) | Short toe | 52 / 7739 | ||||
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(HPO:0009803) | Short phalanx of finger | 79 / 7739 | ||||
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(HPO:0009843) | Aplasia/Hypoplasia of the middle phalanges of the hand | 13 / 7739 | ||||
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(HPO:0006135) | Decreased finger mobility | 2 / 7739 | ||||
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(HPO:0003038) | Fibular hypoplasia | 30 / 7739 | ||||
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(HPO:0005013) | Dysplastic distal radial epiphyses | 1 / 7739 | ||||
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(HPO:0008368) | Tarsal synostosis | 21 / 7739 | ||||
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(HPO:0003022) | Hypoplasia of the ulna | 40 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(OMIM) | Delayed fusion of bipartite calcanci | 1 / 7739 | ||||
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(OMIM) | Abnormal tarsals | 1 / 7739 | ||||
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(OMIM) | Single interphalangeal joint | 1 / 7739 | ||||
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(OMIM) | Broad, short toes | 3 / 7739 | ||||
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(OMIM) | Normal spine | 3 / 7739 | ||||
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(OMIM) | Broad, short fingers | 4 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Osebold et al. (1985) described a kindred in which 7 members had a constellation of skeletal anomalies which appeared to constitute a distinct syndrome. The middle phalanges of the hands and feet were hypoplastic or absent. The limbs ... |