Radio-ulnar synostosis - intellectual deficit - hypotonia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Der Kaloustian-McIntosh-Silver syndrome |
| Number of Symptoms | 27 |
| OrphanetNr: | 3270 |
| OMIM Id: |
266255
|
| ICD-10: |
Q87.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
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 Syndrome with synostosis or other joint formation defect -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0000107) | Renal cyst | Frequent [Orphanet] | 126 / 7739 | |||
|
|
(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
|
|
(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0000426) | Prominent nasal bridge | Very frequent [Orphanet] | 121 / 7739 | |||
|
|
(HPO:0000276) | Long face | 109 / 7739 | ||||
|
|
(HPO:0000670) | Carious teeth | Frequent [Orphanet] | 145 / 7739 | |||
|
|
(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0000268) | Dolichocephaly | Very frequent [Orphanet] | 144 / 7739 | |||
|
|
(HPO:0000448) | Prominent nose | 56 / 7739 | ||||
|
|
(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0000275) | Narrow face | Very frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
|
|
(HPO:0000598) | Abnormality of the ear | Very frequent [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
|
|
(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
|
|
(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
|
(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 244 / 7739 | |||
|
|
(HPO:0002974) | Radioulnar synostosis | Very frequent [Orphanet] | 52 / 7739 | |||
|
|
(HPO:0003083) | Dislocated radial head | 35 / 7739 | ||||
|
|
(HPO:0007477) | Abnormal dermatoglyphics | Very frequent [Orphanet] | 72 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0003011) | Abnormality of the musculature | Very frequent [Orphanet] | 47 / 7739 | |||
|
|
(HPO:0001290) | Generalized hypotonia | 51 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Long narrow face | 11 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|