Weissenbacher- Zweymuller syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA WZS Pierre Robin syndrome - fetal chondrodysplasia Heterozygous OSMED Heterozygous otospondylomegaepiphyseal dysplasia Pierre Robin sequence - fetal chondrodysplasia |
| Number of Symptoms | 22 |
| OrphanetNr: | 3450 |
| OMIM Id: |
277610
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| ICD-10: |
Q77.7 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
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 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Type 11 collagen-related bone disorder -Rare genetic disease |
Symptom Information:
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000201) | Pierre-Robin sequence | 20 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0008625) | Severe sensorineural hearing impairment | 150 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0003172) | Abnormality of the pubic bone | 5 / 7739 | ||||
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(HPO:0003417) | Coronal cleft vertebrae | 14 / 7739 | ||||
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(HPO:0010580) | Enlarged epiphyses | 14 / 7739 | ||||
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(HPO:0000947) | Dumbbell-shaped long bone | 5 / 7739 | ||||
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(HPO:0002868) | Narrow iliac wings | 15 / 7739 | ||||
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(HPO:0008905) | Rhizomelia | 85 / 7739 | ||||
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(HPO:0002644) | Abnormality of pelvic girdle bone morphology | 31 / 7739 | ||||
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(OMIM) | Normal adult height | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Dumbbell widening of long bone metaphyses, especially femurs and humeri | 1 / 7739 | ||||
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(OMIM) | Snub nose | 4 / 7739 | ||||
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(OMIM) | Bulbous deformity of ischial and pubic bone | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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