Verloove Vanhorick-Brubakk syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CLH SYNDROME Cleft - limb-heart malformation syndrome |
| Number of Symptoms | 27 |
| OrphanetNr: | 3429 |
| OMIM Id: |
215850
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| ICD-10: |
Q87.8 |
| UMLs: |
C1859082 |
| MeSH: |
C536541 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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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 Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0100542) | Abnormal localization of kidney | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000308) | Microretrognathia | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Very frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Very frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0000372) | Abnormality of the auditory canal | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000828) | Abnormality of the parathyroid gland | Very frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0002823) | Abnormality of the femur | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0001850) | Abnormality of the tarsal bones | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0010305) | Absence of the sacrum | Very frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0008905) | Rhizomelia | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0001507) | Growth abnormality | 36 / 7739 | ||||
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(HPO:0001660) | Truncus arteriosus | 21 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Very frequent [Orphanet] | 79 / 7739 | |||
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(OMIM) | Lethal in newborn | 1 / 7739 | ||||
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(OMIM) | Oligopolysyndactyly, all limbs | 1 / 7739 | ||||
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(OMIM) | Ear dysplasia | 2 / 7739 | ||||
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(OMIM) | Cheilognatopalatoschizis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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