Growth delay - hydrocephaly - lung hypoplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Game-Friedman-Paradice syndrome |
| Number of Symptoms | 23 |
| OrphanetNr: | 3035 |
| OMIM Id: |
236640
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| ICD-10: |
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| 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: |
Genetic respiratory malformation
-Rare genetic disease Respiratory malformation -Rare respiratory disease Syndromic respiratory or mediastinal malformation -Rare developmental defect during embryogenesis -Rare surgical thoracic disease |
Symptom Information:
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Occasional [Orphanet] | 185 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0002982) | Tibial bowing | 36 / 7739 | ||||
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(HPO:0006487) | Bowing of the long bones | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0000921) | Missing ribs | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0001760) | Abnormality of the foot | 96 / 7739 | ||||
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(HPO:0002991) | Abnormality of the fibula | Occasional [Orphanet] | 49 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0006385) | Short lower limbs | 8 / 7739 | ||||
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(HPO:0004599) | Absent or minimally ossified vertebral bodies | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0002814) | Abnormality of the lower limb | Very frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0001539) | Omphalocele | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0002089) | Pulmonary hypoplasia | 80 / 7739 | ||||
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(OMIM) | Hypoplastic multilobed lungs | 1 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(OMIM) | Patent aqueduct of Sylvius | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0002410) | Aqueductal stenosis | Very frequent [Orphanet] | 19 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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