Crane-Heise syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CLEFT LIP/PALATE, AGENESIS OF CLAVICLES AND CERVICAL VERTEBRAE, AND TALIPES EQUINOVARUS |
| Number of Symptoms | 21 |
| OrphanetNr: | 1512 |
| OMIM Id: |
218090
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| ICD-10: |
Q87.5 |
| UMLs: |
C1857532 |
| MeSH: |
C536452 |
| 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: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000054) | Micropenis | Occasional [Orphanet] | 257 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0004331) | Decreased skull ossification | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000912) | Sprengel anomaly | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0009776) | Adactyly | Frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0006660) | Aplastic clavicles | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Very frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0004599) | Absent or minimally ossified vertebral bodies | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 253 / 7739 | |||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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