Short rib-polydactyly syndrome, Verma-Naumoff type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Short rib-polydactyly syndrome type 3 |
| Number of Symptoms | 35 |
| OrphanetNr: | 93271 |
| OMIM Id: |
263510
614091 615503 |
| ICD-10: |
Q77.2 |
| UMLs: |
C0432197 |
| MeSH: |
C537602 |
| MedDRA: |
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| Snomed: |
254051008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Short rib-polydactyly syndrome
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare respiratory disease Syndromic anorectal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000072) | Hydroureter | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000113) | Polycystic kidney dysplasia | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0000062) | Ambiguous genitalia | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000445) | Wide nose | Frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0100629) | Midline facial cleft | Occasional [Orphanet] | 3 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000161) | Median cleft lip | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000343) | Long philtrum | Frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0001177) | Preaxial hand polydactyly | Occasional [Orphanet] | 59 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0005257) | Thoracic hypoplasia | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0008905) | Rhizomelia | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0001789) | Hydrops fetalis | Frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0001539) | Omphalocele | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0001545) | Anteriorly placed anus | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0002612) | Congenital hepatic fibrosis | Frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 275 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 253 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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