Oculocerebrocutaneous syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OCCS Leichtman-Wood-Rohn syndrome Delleman-Oorthuys syndrome delleman syndrome orbital cyst with cerebral and focal dermal malformations |
| Number of Symptoms | 62 |
| OrphanetNr: | 1647 |
| OMIM Id: |
164180
|
| ICD-10: |
Q87.8 |
| UMLs: |
C0796092 |
| MeSH: |
C538088 |
| MedDRA: |
|
| Snomed: |
403554008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 40 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Epileptic syndrome
-Rare genetic disease -Rare neurologic disease Other syndrome with a central nervous system malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic 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:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0004426) | Abnormality of the cheek | Very frequent [Orphanet] | 3 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000202) | Oral cleft | Occasional [Orphanet] | 120 / 7739 | |||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000528) | Anophthalmia | 42 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0001144) | Orbital cyst | 4 / 7739 | ||||
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(HPO:0002006) | Facial cleft | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0007115) | Orbital encephalocele | 1 / 7739 | ||||
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(HPO:0000625) | Cleft eyelid | Frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0001362) | Calvarial skull defect | Frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0003191) | Cleft ala nasi | 8 / 7739 | ||||
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(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
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(HPO:0000154) | Wide mouth | Occasional [Orphanet] | 137 / 7739 | |||
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(HPO:0001305) | Dandy-Walker malformation | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000356) | Abnormality of the outer ear | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Occasional [Orphanet] | 125 / 7739 | |||
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(HPO:0000765) | Abnormality of the thorax | 64 / 7739 | ||||
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(HPO:0000921) | Missing ribs | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0001374) | Congenital hip dislocation | 51 / 7739 | ||||
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(HPO:0001161) | Hand polydactyly | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
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(HPO:0100777) | Exostoses | Occasional [Orphanet] | 32 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Occasional [Orphanet] | 309 / 7739 | |||
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(HPO:0011305) | Partial absence of toe | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0000775) | Abnormality of the diaphragm | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0007510) | Focal dermal aplasia/hypoplasia | 1 / 7739 | ||||
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(HPO:0001596) | Alopecia | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0001231) | Abnormality of the fingernails | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0001053) | Hypopigmented skin patches | Frequent [Orphanet] | 80 / 7739 | |||
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(OMIM) | Postauricular crescent-shaped hypoplastic skin lesion | 1 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | Frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(OMIM) | Rib dysplasia | 1 / 7739 | ||||
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(HPO:0002536) | Abnormal cortical gyration | Very frequent [Orphanet] | 72 / 7739 | |||
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(OMIM) | Punch-like skin defects | 1 / 7739 | ||||
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(OMIM) | Focal alopecia | 1 / 7739 | ||||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0002282) | Heterotopia | 21 / 7739 | ||||
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(MedDRA:10061445) | Cerebral cyst | 2 / 7739 | ||||
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(OMIM) | Skin appendages (periorbital, face, thorax, rarely on trunk) | 1 / 7739 | ||||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 | |||
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(OMIM) | Dermoids | 1 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0003745) | Sporadic | 131 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|