Mononen-Karnes-Senac syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
THUMBS AND GREAT TOES, SHORT AND ABDUCTED Skeletal dysplasia - brachydactyly |
| Number of Symptoms | 33 |
| OrphanetNr: | 2565 |
| OMIM Id: |
301940
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| ICD-10: |
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| UMLs: |
C2931060 |
| MeSH: |
C535914 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
X-linked dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with brachydactyly
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0100266) | Synostosis of carpals/tarsals | 4 / 7739 | ||||
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(HPO:0010432) | Absent distal phalanx of the 2nd toe | 1 / 7739 | ||||
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(HPO:0001850) | Abnormality of the tarsal bones | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0100777) | Exostoses | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0011305) | Partial absence of toe | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0010034) | Short 1st metacarpal | 19 / 7739 | ||||
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(HPO:0010109) | Short hallux | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0010105) | Short first metatarsal | 4 / 7739 | ||||
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(HPO:0005048) | Synostosis of carpal bones | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0005067) | Proximal fibular overgrowth | 3 / 7739 | ||||
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(HPO:0005930) | Abnormality of epiphysis morphology | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0009700) | Finger symphalangism | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0009565) | Aplasia of the distal phalanx of the 2nd finger | 1 / 7739 | ||||
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(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0003027) | Mesomelia | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
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(HPO:0003502) | Mild short stature | 19 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0001231) | Abnormality of the fingernails | Frequent [Orphanet] | 116 / 7739 | |||
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(OMIM) | Variable mild short stature | 1 / 7739 | ||||
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(HPO:0001423) | X-linked dominant inheritance | 69 / 7739 | ||||
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(OMIM) | Short first metacarpals and first metatarsals | 1 / 7739 | ||||
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(OMIM) | Mild bowleg | 1 / 7739 | ||||
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(OMIM) | Absent distal phalanges of index fingers and second toes | 1 / 7739 | ||||
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(OMIM) | Short, abducted great toes | 1 / 7739 | ||||
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(OMIM) | Short abducted thumbs | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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