Pyknoachondrogenesis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Camera syndrome |
| Number of Symptoms | 21 |
| OrphanetNr: | 3003 |
| OMIM Id: |
265880
|
| ICD-10: |
Q78.8 |
| UMLs: |
C1849523 |
| MeSH: |
C536251 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Lethal chondrodysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0100540) | Palpebral edema | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000153) | Abnormality of the mouth | Very frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0005989) | Redundant neck skin | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000256) | Macrocephaly | 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:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0100625) | Enlarged thorax | Very frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0005107) | Abnormality of the sacrum | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | 113 / 7739 | ||||
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(HPO:0005257) | Thoracic hypoplasia | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0004599) | Absent or minimally ossified vertebral bodies | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Severe bone sclerosis | 1 / 7739 | ||||
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(HPO:0003826) | Stillbirth | 40 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(OMIM) | Pyknoachondrogenesis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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