| dbo:abstract
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- Ectrodactyly with tibia aplasia/hypoplasia also known as cleft hand absent tibia is a very rare limb malformation syndrome which is characterized by ectrodactyly, and aplasia/hypoplasia of the tibia bone. Additional findings include cup-shaped ears, pre-postaxial polydactyly, and hypoplasia of the big toes, femur, patella, and ulnae bone. It is inherited as an autosomal dominant trait with reduced penetrance. (en)
- Das Tibia-Aplasie-Ektrodaktylie-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Ektrodaktylie und Tibialer Hemimelie. Synonyme sind: Tibiaaplasie – Ektrodaktylie; englisch Tibial aplasia – ectrodactyly; SHFLD syndrome, Akronym für Split-Hand/Foot malformation with Long bone Deficiency (de)
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| dbo:alias
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- (en)
- Aplasia of tibia with ectrodactyly, tibial aplasia with split-hand/split-foot deformity, etrodactyly with aplasia of long bones, split-hand/foot malformation with long bone deficiency, SHFLD (en)
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- 5578 (xsd:nonNegativeInteger)
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| dbp:causes
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| dbp:complications
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| dbp:diagnosis
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- Physical evaluation, radiography (en)
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| dbp:duration
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| dbp:frequency
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| dbp:name
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- Ectrodactyly with tibia aplasia/hypoplasia (en)
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| dbp:onset
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| dbp:prevention
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| dbp:prognosis
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| dbp:risks
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- Having close relatives with the disorder (en)
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| dbp:specialty
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| dbp:symptoms
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- Ectrodactyly with missing/underdeveloped tibia. (en)
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| dbp:synonyms
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- Aplasia of tibia with ectrodactyly, tibial aplasia with split-hand/split-foot deformity, etrodactyly with aplasia of long bones, split-hand/foot malformation with long bone deficiency, SHFLD (en)
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| dbp:types
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| rdfs:comment
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- Ectrodactyly with tibia aplasia/hypoplasia also known as cleft hand absent tibia is a very rare limb malformation syndrome which is characterized by ectrodactyly, and aplasia/hypoplasia of the tibia bone. Additional findings include cup-shaped ears, pre-postaxial polydactyly, and hypoplasia of the big toes, femur, patella, and ulnae bone. It is inherited as an autosomal dominant trait with reduced penetrance. (en)
- Das Tibia-Aplasie-Ektrodaktylie-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Ektrodaktylie und Tibialer Hemimelie. Synonyme sind: Tibiaaplasie – Ektrodaktylie; englisch Tibial aplasia – ectrodactyly; SHFLD syndrome, Akronym für Split-Hand/Foot malformation with Long bone Deficiency (de)
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| rdfs:label
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- Ectrodactyly with tibia aplasia/hypoplasia (en)
- Tibia-Aplasie-Ektrodaktylie-Syndrom (de)
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