Arachnodactyly - abnormal ossification - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Kosztolanyi syndrome |
| Number of Symptoms | 24 |
| OrphanetNr: | 1129 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| 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: | 5 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
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 |
Symptom Information:
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(HPO:0005487) | Prominent metopic ridge | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Very frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0000520) | Proptosis | Very frequent [Orphanet] | 192 / 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:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0004331) | Decreased skull ossification | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000272) | Malar flattening | Very frequent [Orphanet] | 277 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000921) | Missing ribs | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Very frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0011302) | Long palm | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Very frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0000974) | Hyperextensible skin | Very frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0001601) | Laryngomalacia | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0400004) | Long ear | Very frequent [Orphanet] | 94 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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