Microcephaly - cervical spine fusion anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 30 |
| OrphanetNr: | 2522 |
| OMIM Id: |
251250
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| ICD-10: |
Q87.8 |
| UMLs: |
C0796066 |
| MeSH: |
C537325 |
| MedDRA: |
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| Snomed: |
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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: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndrome with microcephaly as major feature -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000069) | Abnormality of the ureter | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0000047) | Hypospadias | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0006482) | Abnormality of dental morphology | Frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000444) | Convex nasal ridge | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000272) | Malar flattening | Very frequent [Orphanet] | 277 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0012371) | Hyperplasia of midface | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0000520) | Proptosis | Very frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000470) | Short neck | Frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000340) | Sloping forehead | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0003422) | Vertebral segmentation defect | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0003307) | Hyperlordosis | Very frequent [Orphanet] | 122 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0005881) | Spinal instability | 1 / 7739 | ||||
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(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
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(HPO:0002948) | Vertebral fusion | 28 / 7739 | ||||
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(HPO:0002808) | Kyphosis | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0006660) | Aplastic clavicles | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0002176) | Spinal cord compression | 15 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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