Camptodactyly syndrome, Guadalajara type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 36 |
| OrphanetNr: | 1326 |
| OMIM Id: |
211920
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| ICD-10: |
Q87.1 |
| UMLs: |
C2931680 |
| MeSH: |
C537971 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 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 |
Symptom Information:
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(HPO:0000066) | Labial hypoplasia | 10 / 7739 | ||||
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(HPO:0000601) | Hypotelorism | 83 / 7739 | ||||
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000400) | Macrotia | 108 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0006610) | Wide intermamillary distance | 46 / 7739 | ||||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0003065) | Patellar hypoplasia | 8 / 7739 | ||||
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(HPO:0003045) | Abnormality of the patella | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Very frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0005819) | Short middle phalanx of finger | 28 / 7739 | ||||
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(HPO:0003100) | Slender long bone | 45 / 7739 | ||||
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(HPO:0011917) | Short 5th toe | 2 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
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(HPO:0001885) | Short 2nd toe | 4 / 7739 | ||||
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(HPO:0000938) | Osteopenia | 138 / 7739 | ||||
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(HPO:0004634) | Cuboid-shaped vertebral bodies | 4 / 7739 | ||||
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(HPO:0008093) | Short 4th toe | 3 / 7739 | ||||
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(HPO:0001822) | Hallux valgus | 70 / 7739 | ||||
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(HPO:0005643) | Short 3rd toe | 2 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0005617) | Bilateral camptodactyly | 4 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(OMIM) | Gluteal hypoplasia | 1 / 7739 | ||||
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(OMIM) | Brachydactyly, toes 2,4, and 5 | 1 / 7739 | ||||
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(HPO:0012815) | Hypoplastic female external genitalia | Very frequent [Orphanet] | 36 / 7739 | |||
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(OMIM) | Pelvis hypoplasia | 1 / 7739 | ||||
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(OMIM) | Second phalanx hypoplasia | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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