Blepharophimosis - ptosis - esotropia - syndactyly - short stature
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Frydman-Cohen-Karmon syndrome |
| Number of Symptoms | 26 |
| OrphanetNr: | 2057 |
| OMIM Id: |
210745
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| ICD-10: |
Q87.8 |
| 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: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [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 Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Ptosis -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0007715) | Weak extraocular muscles | 1 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000565) | Esotropia | 58 / 7739 | ||||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0004661) | Frontalis muscle weakness | 2 / 7739 | ||||
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(HPO:0001291) | Abnormality of the cranial nerves | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0004408) | Abnormality of the sense of smell | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0000458) | Anosmia | 49 / 7739 | ||||
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(HPO:0010632) | Total anosmia | 6 / 7739 | ||||
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(HPO:0006889) | Intellectual disability, borderline | 6 / 7739 | ||||
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(HPO:0010621) | Cutaneous syndactyly of toes | 36 / 7739 | ||||
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(HPO:0010554) | Cutaneous finger syndactyly | 39 / 7739 | ||||
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(HPO:0001760) | Abnormality of the foot | 96 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | Very frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0002553) | Highly arched eyebrow | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000664) | Synophrys | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0000574) | Thick eyebrow | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0012471) | Thick vermilion border | Occasional [Orphanet] | 115 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(OMIM) | Borderline small occipitofrontal head circumference (3rd-25th percentile) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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