Epiphyseal dysplasia - hearing loss - dysmorphism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Finucane-Kurtz-Scott syndrome |
| Number of Symptoms | 26 |
| OrphanetNr: | 1825 |
| OMIM Id: |
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| ICD-10: |
Q87.0 |
| 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: |
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| Age of onset: |
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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:0100542) | Abnormal localization of kidney | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000154) | Wide mouth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000343) | Long philtrum | Frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0002002) | Deep philtrum | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001167) | Abnormality of finger | Frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0009623) | Proximal placement of thumb | Very frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001172) | Abnormality of the thumb | Very frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0003019) | Abnormality of the wrist | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0001053) | Hypopigmented skin patches | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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