Tibial aplasia - ectrodactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TH-SHFM Split hand/foot malformation with long bone deficiency Tibial hemimelia-ectrodactyly syndrome SHFLD syndrome Tibial hemimelia with split hand/foot malformation Split-hand/foot malformation associated with aplasia of long bones SHFM associated with aplasia of long bones Aplasia of tibia with split-hand/split-foot deformity |
| Number of Symptoms | 26 |
| OrphanetNr: | 3329 |
| OMIM Id: |
119100
610685 612576 |
| ICD-10: |
Q73.8 |
| 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: | 0.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dysostosis with combined reduction defects of upper and lower limbs
-Rare bone disease -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Syndrome with limb reduction defects -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0008544) | Abnormally folded helix | Occasional [Orphanet] | 24 / 7739 | |||
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(HPO:0000378) | Cupped ear | 34 / 7739 | ||||
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(HPO:0006495) | Aplasia/Hypoplasia of the ulna | 7 / 7739 | ||||
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(HPO:0004279) | Short palm | Occasional [Orphanet] | 323 / 7739 | |||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0002997) | Abnormality of the ulna | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0009380) | Aplasia of the fingers | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0003045) | Abnormality of the patella | Occasional [Orphanet] | 33 / 7739 | |||
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(HPO:0002991) | Abnormality of the fibula | Occasional [Orphanet] | 49 / 7739 | |||
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(HPO:0001177) | Preaxial hand polydactyly | Occasional [Orphanet] | 59 / 7739 | |||
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(HPO:0002992) | Abnormality of the tibia | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0004060) | Trident hand | Very frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0006443) | Patellar aplasia | 14 / 7739 | ||||
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(HPO:0001839) | Split foot | 28 / 7739 | ||||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0004058) | Hand monodactyly | 8 / 7739 | ||||
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(HPO:0009756) | Popliteal pterygium | Occasional [Orphanet] | 9 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | Occasional [Orphanet] | 119 / 7739 | |||
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(HPO:0005632) | Absent forearm | 4 / 7739 | ||||
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(HPO:0010109) | Short hallux | 27 / 7739 | ||||
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(HPO:0002823) | Abnormality of the femur | Occasional [Orphanet] | 61 / 7739 | |||
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(HPO:0009556) | Absent tibia | 9 / 7739 | ||||
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(HPO:0001539) | Omphalocele | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0011420) | Death | Occasional [Orphanet] | 184 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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