Acro-pectoro-renal dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 28 |
| OrphanetNr: | 956 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 12 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease -Rare developmental defect during embryogenesis Syndromic breast hypoplasia/aplasia -Rare gynecologic or obstetric disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0100542) | Abnormal localization of kidney | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0000069) | Abnormality of the ureter | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000076) | Vesicoureteral reflux | Occasional [Orphanet] | 94 / 7739 | |||
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(HPO:0000047) | Hypospadias | Occasional [Orphanet] | 250 / 7739 | |||
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(HPO:0008714) | Ureterovesical stenosis | Occasional [Orphanet] | 10 / 7739 | |||
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(HPO:0002084) | Encephalocele | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0000545) | Myopia | Occasional [Orphanet] | 286 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0006709) | Aplasia/Hypoplasia of the nipples | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | Occasional [Orphanet] | 131 / 7739 | |||
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(HPO:0003298) | Spina bifida occulta | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0000921) | Missing ribs | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0002808) | Kyphosis | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0000912) | Sprengel anomaly | Occasional [Orphanet] | 51 / 7739 | |||
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(HPO:0003422) | Vertebral segmentation defect | Occasional [Orphanet] | 95 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0004279) | Short palm | Occasional [Orphanet] | 323 / 7739 | |||
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(HPO:0000768) | Pectus carinatum | Occasional [Orphanet] | 136 / 7739 | |||
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(HPO:0001161) | Hand polydactyly | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0009751) | Aplasia of the pectoralis major muscle | Very frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0009380) | Aplasia of the fingers | Occasional [Orphanet] | 51 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0002577) | Abnormality of the stomach | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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