Craniomicromelic syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 38 |
| OrphanetNr: | 1524 |
| OMIM Id: |
602558
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| ICD-10: |
Q87.0 |
| 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 recessive inheritance [Omim] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic craniosynostosis
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000130) | Abnormality of the uterus | Frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000072) | Hydroureter | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0002084) | Encephalocele | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | Frequent [Orphanet] | 132 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0004331) | Decreased skull ossification | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000275) | Narrow face | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000262) | Turricephaly | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0009776) | Adactyly | Frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0011849) | Abnormal bone ossification | Frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0002983) | Micromelia | Frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0000774) | Narrow chest | Frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0001852) | Sandal gap | Occasional [Orphanet] | 63 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0001591) | Bell-shaped thorax | Occasional [Orphanet] | 35 / 7739 | |||
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(HPO:0001182) | Tapered finger | Frequent [Orphanet] | 93 / 7739 | |||
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(HPO:0005207) | Gastric hypertrophy | Occasional [Orphanet] | 2 / 7739 | |||
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(HPO:0002244) | Abnormality of the small intestine | Frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0005264) | Abnormality of the gallbladder | Frequent [Orphanet] | 14 / 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 | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0002410) | Aqueductal stenosis | Occasional [Orphanet] | 19 / 7739 | |||
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(HPO:0011420) | Death | Frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0012815) | Hypoplastic female external genitalia | Occasional [Orphanet] | 36 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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