Absent tibia - polydactyly - arachnoid cyst
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Holmes-Collins syndrome |
| Number of Symptoms | 26 |
| OrphanetNr: | 3328 |
| OMIM Id: |
601027
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| ICD-10: |
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| UMLs: |
C2931368 |
| MeSH: |
C536918 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [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 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -Rare bone disease -Rare developmental defect during embryogenesis Syndrome with limb reduction defects -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0100702) | Arachnoid cyst | 15 / 7739 | ||||
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(HPO:0006487) | Bowing of the long bones | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0002986) | Radial bowing | 27 / 7739 | ||||
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(HPO:0001162) | Postaxial hand polydactyly | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0001830) | Postaxial foot polydactyly | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0001841) | Preaxial foot polydactyly | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0002991) | Abnormality of the fibula | Frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0005772) | Aplasia/Hypoplasia of the tibia | 2 / 7739 | ||||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000327) | Hypoplasia of the maxilla | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0007291) | Posterior fossa cyst | 10 / 7739 | ||||
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(HPO:0000765) | Abnormality of the thorax | 64 / 7739 | ||||
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(HPO:0002566) | Intestinal malrotation | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0000775) | Abnormality of the diaphragm | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0100335) | Non-midline cleft lip | 12 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0002190) | Choroid plexus cyst | 5 / 7739 | ||||
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(OMIM) | Absent diaphragm. | 1 / 7739 | ||||
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(OMIM) | Absent/hypoplastic tibia. Bowed radius and ulna. Postaxial polydactyly of hands. Postaxial polydactyly of feet. Preaxial polydactyly of feet. Clubfoot. | 1 / 7739 | ||||
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(OMIM) | Posterior fossa cyst. Choroid plexus cyst. | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Holmes et al. (1995) described 3 sibs, 1 female and 2 male, with absence or hypoplasia of the tibia in association with other malformations. The parents were first cousins once removed. The girl had unilateral cleft lip, absence ... |