Faciocardiorenal syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
eastman-bixler syndrome |
| Number of Symptoms | 44 |
| OrphanetNr: | 1973 |
| OMIM Id: |
227280
|
| ICD-10: |
Q87.8 |
| UMLs: |
C0795936 |
| MeSH: |
C536388 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000085) | Horseshoe kidney | 39 / 7739 | ||||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0100542) | Abnormal localization of kidney | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000072) | Hydroureter | 146 / 7739 | ||||
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(HPO:0001357) | Plagiocephaly | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000430) | Underdeveloped nasal alae | Very frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000288) | Abnormality of the philtrum | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Occasional [Orphanet] | 188 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0005326) | Hypoplastic philtrum | 4 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
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(HPO:0000272) | Malar flattening | Very frequent [Orphanet] | 277 / 7739 | |||
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(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
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(HPO:0002515) | Waddling gait | 56 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0010055) | Broad hallux | 56 / 7739 | ||||
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(HPO:0001770) | Toe syndactyly | 149 / 7739 | ||||
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(HPO:0010621) | Cutaneous syndactyly of toes | 36 / 7739 | ||||
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(HPO:0004691) | 2-3 toe syndactyly | 50 / 7739 | ||||
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(HPO:0009700) | Finger symphalangism | 55 / 7739 | ||||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0003764) | Nevus | 17 / 7739 | ||||
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(HPO:0001792) | Small nail | 55 / 7739 | ||||
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(HPO:0001706) | Endocardial fibroelastosis | 20 / 7739 | ||||
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(HPO:0001702) | Abnormality of the tricuspid valve | Occasional [Orphanet] | 32 / 7739 | |||
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(HPO:0004306) | Abnormality of the endocardium | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0003199) | Decreased muscle mass | 27 / 7739 | ||||
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(OMIM) | Multiple nevi | 4 / 7739 | ||||
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(OMIM) | Broad halluces | 12 / 7739 | ||||
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(OMIM) | Thumb clinodactyly | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Stiff, prominent pinnae | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Symphalangism | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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