Holoprosencephaly - craniosynostosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
genoa syndrome Camero-Lituania-Cohen syndrome |
| Number of Symptoms | 29 |
| OrphanetNr: | 2163 |
| OMIM Id: |
601370
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| ICD-10: |
Q04.2 Q75.0 |
| 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: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Other syndrome with a central nervous system malformation as major feature
-Rare developmental defect during embryogenesis -Rare neurologic disease Syndromic craniosynostosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000601) | Hypotelorism | Very frequent [Orphanet] | 83 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | Very frequent [Orphanet] | 132 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Very frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0004443) | Lambdoidal craniosynostosis | 15 / 7739 | ||||
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(HPO:0001357) | Plagiocephaly | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0004440) | Coronal craniosynostosis | 38 / 7739 | ||||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Very frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0002673) | Coxa valga | 57 / 7739 | ||||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0008479) | Hypoplastic vertebral bodies | 12 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0002507) | Semilobar holoprosencephaly | 6 / 7739 | ||||
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(OMIM) | Primary coronal and lambdoid craniosynostosis | 1 / 7739 | ||||
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(OMIM) | Hypoplastic terminal phalanges of fingers | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0012443) | Abnormality of brain morphology | Very frequent [Orphanet] | 45 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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