Holzgreve-Wagner-Rehder syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 34 |
| OrphanetNr: | 2167 |
| OMIM Id: |
236110
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| ICD-10: |
Q87.8 |
| UMLs: |
C1856095 |
| MeSH: |
C535327 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000104) | Renal agenesis | 68 / 7739 | ||||
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(HPO:0000089) | Renal hypoplasia | 78 / 7739 | ||||
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
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(HPO:0000465) | Webbed neck | Frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000171) | Microglossia | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000262) | Turricephaly | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000202) | Oral cleft | 120 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0010297) | Bifid tongue | Frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0001161) | Hand polydactyly | Very frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0010442) | Polydactyly | 69 / 7739 | ||||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0004599) | Absent or minimally ossified vertebral bodies | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000921) | Missing ribs | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001195) | Single umbilical artery | Frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0001562) | Oligohydramnios | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0100016) | Abnormality of mesentery morphology | Frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0004383) | Hypoplastic left heart | 29 / 7739 | ||||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Hypoplastic left heart sequence | 1 / 7739 | ||||
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(HPO:0400004) | Long ear | Frequent [Orphanet] | 94 / 7739 | |||
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(OMIM) | Complex congenital heart defect | 3 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(OMIM) | Skeletal defects | 1 / 7739 | ||||
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(OMIM) | Potter sequence | 2 / 7739 | ||||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Frequent [Orphanet] | 180 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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