Cyprus facial-neuromusculoskeletal syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 31 |
| OrphanetNr: | 2674 |
| OMIM Id: |
123853
|
| ICD-10: |
Q87.8 |
| UMLs: |
C1852396 |
| MeSH: |
C536229 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 1 family [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Genetic skeletal muscle disease -Rare genetic disease -Rare neurologic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0000470) | Short neck | Frequent [Orphanet] | 345 / 7739 | |||
|
|
(HPO:0000280) | Coarse facial features | Very frequent [Orphanet] | 189 / 7739 | |||
|
|
(HPO:0002162) | Low posterior hairline | Frequent [Orphanet] | 88 / 7739 | |||
|
|
(HPO:0000349) | Widow's peak | Very frequent [Orphanet] | 26 / 7739 | |||
|
|
(HPO:0002553) | Highly arched eyebrow | Very frequent [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
|
|
(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
|
|
(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0001288) | Gait disturbance | Occasional [Orphanet] | 318 / 7739 | |||
|
|
(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
|
|
(HPO:0000944) | Abnormality of the metaphyses | Occasional [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
|
|
(HPO:0002808) | Kyphosis | Very frequent [Orphanet] | 289 / 7739 | |||
|
|
(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
|
|
(HPO:0002803) | Congenital contracture | Occasional [Orphanet] | 45 / 7739 | |||
|
|
(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
|
|
(HPO:0002823) | Abnormality of the femur | Occasional [Orphanet] | 61 / 7739 | |||
|
|
(HPO:0000912) | Sprengel anomaly | Occasional [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0002815) | Abnormality of the knee | Occasional [Orphanet] | 19 / 7739 | |||
|
|
(HPO:0002814) | Abnormality of the lower limb | Occasional [Orphanet] | 23 / 7739 | |||
|
|
(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
|
|
(HPO:0004326) | Cachexia | Frequent [Orphanet] | 71 / 7739 | |||
|
|
(HPO:0011362) | Abnormal hair quantity | Occasional [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
|
|
(HPO:0001582) | Redundant skin | Frequent [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0001608) | Abnormality of the voice | Occasional [Orphanet] | 126 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0003457) | EMG abnormality | Occasional [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0030089) | Abnormal muscle fiber protein expression | Occasional [Orphanet] | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|