Thoracolaryngopelvic dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Barnes syndrome |
| Number of Symptoms | 22 |
| OrphanetNr: | 3317 |
| OMIM Id: |
187760
187770 |
| ICD-10: |
Q77.2 |
| UMLs: |
C1861197 |
| MeSH: |
C536517 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 10 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic respiratory malformation
-Rare genetic disease Respiratory malformation -Rare respiratory disease Short rib dysplasia -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Thoracic malformation -Rare respiratory disease |
Symptom Information:
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(HPO:0000540) | Hypermetropia | Frequent [Orphanet] | 99 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0002866) | Hypoplastic iliac wing | 34 / 7739 | ||||
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(HPO:0006660) | Aplastic clavicles | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000773) | Short ribs | 70 / 7739 | ||||
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(HPO:0006606) | Irregular chondrocostal junctions | 3 / 7739 | ||||
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(HPO:0000888) | Horizontal ribs | 12 / 7739 | ||||
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(HPO:0000772) | Abnormality of the ribs | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0001591) | Bell-shaped thorax | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0008839) | Hypoplastic pelvis | 18 / 7739 | ||||
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(HPO:0003301) | Irregular vertebral endplates | 25 / 7739 | ||||
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(HPO:0003016) | Metaphyseal widening | 41 / 7739 | ||||
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(HPO:0003275) | Narrow pelvis bone | 8 / 7739 | ||||
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(HPO:0002686) | Prenatal maternal abnormality | 3 / 7739 | ||||
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(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0001533) | Slender build | 11 / 7739 | ||||
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(HPO:0001602) | Laryngeal stenosis | 21 / 7739 | ||||
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(HPO:0001601) | Laryngomalacia | Frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 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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