Split hand - urinary anomalies - spina bifida
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Czeizel-Losonci syndrome |
| Number of Symptoms | 36 |
| OrphanetNr: | 2437 |
| OMIM Id: |
183802
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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: | 3 cases [Orphanet] |
| 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 Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000126) | Hydronephrosis | 119 / 7739 | ||||
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(HPO:0000072) | Hydroureter | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0005999) | Ureteral atresia | 5 / 7739 | ||||
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(HPO:0000582) | Upslanted palpebral fissure | Frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000340) | Sloping forehead | Frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0000465) | Webbed neck | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0009896) | Abnormality of the antitragus | Frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0004404) | Abnormality of the nipple | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0006709) | Aplasia/Hypoplasia of the nipples | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0009623) | Proximal placement of thumb | Frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0001839) | Split foot | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0003298) | Spina bifida occulta | Frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0002475) | Myelomeningocele | Frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0010554) | Cutaneous finger syndactyly | 39 / 7739 | ||||
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(HPO:0002944) | Thoracolumbar scoliosis | 13 / 7739 | ||||
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(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0004060) | Trident hand | Frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Occasional [Orphanet] | 309 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0000775) | Abnormality of the diaphragm | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0002575) | Tracheoesophageal fistula | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0100555) | Asymmetric growth | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0001072) | Thickened skin | Frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Frequent [Orphanet] | 228 / 7739 | |||
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(HPO:0000969) | Edema | Frequent [Orphanet] | 117 / 7739 | |||
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(OMIM) | Megaloureter | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
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(HPO:0011420) | Death | Frequent [Orphanet] | 184 / 7739 | |||
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(OMIM) | Split-hand/foot | 1 / 7739 | ||||
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(MedDRA:10029984) | Obstructive uropathy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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