Mesomelic dwarfism - cleft palate - camptodactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Reardon-Hall-Slaney syndrome |
| Number of Symptoms | 28 |
| OrphanetNr: | 2631 |
| OMIM Id: |
249710
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| ICD-10: |
Q78.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| 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 Mesomelic and rhizo-mesomelic dysplasia -Rare bone disease -Rare developmental defect during embryogenesis -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:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000278) | Retrognathia | 100 / 7739 | ||||
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(HPO:0000308) | Microretrognathia | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0010650) | Hypoplasia of the premaxilla | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000233) | Thin vermilion border | Frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0008544) | Abnormally folded helix | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0006488) | Bowing of the arm | 2 / 7739 | ||||
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(HPO:0002979) | Bowing of the legs | 28 / 7739 | ||||
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(HPO:0005930) | Abnormality of epiphysis morphology | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0005011) | Mesomelic arm shortening | 13 / 7739 | ||||
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(HPO:0004987) | Mesomelic leg shortening | 3 / 7739 | ||||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0006487) | Bowing of the long bones | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0003042) | Elbow dislocation | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0003027) | Mesomelia | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0200040) | Epidermoid cyst | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0002101) | Abnormal lung lobation | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0011420) | Death | Frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Reardon et al. (1993) reported a brother and sister, the offspring of second-cousin Pakistani parents, with an apparently new form of mesomelic limb shortening and bowing with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly. The ... |