COFS syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Cerebrooculofacioskeletal syndrome Pena-Shokeir syndrome type 2 |
| Number of Symptoms | 64 |
| OrphanetNr: | 1466 |
| OMIM Id: |
214150
610756 610758 |
| ICD-10: |
Q87.1 |
| 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: | < 20 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cockayne syndrome
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare neurologic disease -Rare oncologic disease -Rare otorhinolaryngologic disease -Rare skin disease Syndromic microphthalmia -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000470) | Short neck | Frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000340) | Sloping forehead | 86 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | 121 / 7739 | ||||
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(HPO:0000490) | Deeply set eye | 131 / 7739 | ||||
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(HPO:0000233) | Thin vermilion border | Very frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000159) | Abnormality of the lip | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0005487) | Prominent metopic ridge | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 266 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0002187) | Intellectual disability, profound | 44 / 7739 | ||||
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(HPO:0006610) | Wide intermamillary distance | 46 / 7739 | ||||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001838) | Rocker bottom foot | 85 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0002673) | Coxa valga | 57 / 7739 | ||||
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(HPO:0002803) | Congenital contracture | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0002804) | Arthrogryposis multiplex congenita | 93 / 7739 | ||||
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(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0008125) | Second metatarsal posteriorly placed | 2 / 7739 | ||||
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(HPO:0006380) | Knee flexion contracture | 56 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | Occasional [Orphanet] | 309 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0000992) | Cutaneous photosensitivity | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0001007) | Hirsutism | 91 / 7739 | ||||
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(HPO:0004681) | Deep longitudinal plantar crease | 3 / 7739 | ||||
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(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 275 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(HPO:0003819) | Death in childhood | 42 / 7739 | ||||
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(HPO:0002171) | Gliosis | 48 / 7739 | ||||
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(HPO:0012448) | Delayed myelination | 51 / 7739 | ||||
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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