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Tibia, hypoplasia or aplasia of, with polydactyly(THYP)

MedGen UID:
348786
Concept ID:
C1861098
Disease or Syndrome
Synonyms: Absence of tibia with polydactyly; Mesomelic Dysplasia, Werner Type; Polydactyly with absent tibia; THYP; TIBIAL HEMIMELIA-POLYDACTYLY-TRIPHALANGEAL THUMBS WITH FIBULAR DIMELIA; Werner mesomelic syndrome
 
Gene (location): ZRS (7q36.3)
 
Monarch Initiative: MONDO:0008572
OMIM®: 188740
Orphanet: ORPHA988

Definition

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. [from ORDO]

Clinical features

From HPO
Triphalangeal thumb
MedGen UID:
66029
Concept ID:
C0241397
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Preaxial polydactyly
MedGen UID:
87498
Concept ID:
C0345354
Congenital Abnormality
A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Fibular duplication
MedGen UID:
478372
Concept ID:
C3276742
Finding
Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.
Absent tibia
MedGen UID:
478374
Concept ID:
C3276744
Finding
Absence of the tibia.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTibia, hypoplasia or aplasia of, with polydactyly

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
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Greene WB
Compr Ther 1996 Jan;22(1):22-9. PMID: 8654021

Diagnosis

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Greene WB
Compr Ther 1996 Jan;22(1):22-9. PMID: 8654021

Therapy

Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
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Prognosis

Perry AK, Maheshwer B, DeFroda SF, Hevesi M, Gursoy S, Chahla J, Yanke A
JBJS Rev 2022 Nov 1;10(11) Epub 2022 Nov 28 doi: 10.2106/JBJS.RVW.22.00054. PMID: 36441831
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Wassel HD
Clin Orthop Relat Res 1969 May-Jun;64:175-93. PMID: 4894526

Clinical prediction guides

Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Manske MC, Kennedy CD, Huang JI
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Recent systematic reviews

Karim JN, Di Mascio D, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2024 Jul;64(1):15-27. doi: 10.1002/uog.27649. PMID: 38547384
Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA
Mol Genet Genomics 2022 Sep;297(5):1195-1214. Epub 2022 Jul 30 doi: 10.1007/s00438-022-01930-1. PMID: 35907958
Arshad Z, Maughan HD, Sunil Kumar KH, Pettit M, Arora A, Khanduja V
Knee Surg Sports Traumatol Arthrosc 2021 Sep;29(9):2825-2836. Epub 2021 Jul 6 doi: 10.1007/s00167-021-06643-3. PMID: 34228156Free PMC Article
Turati M, Anghilieri FM, Accadbled F, Piatti M, Di Benedetto P, Moltrasio F, Zatti G, Zanchi N, Bigoni M
Knee 2021 Jun;30:205-213. Epub 2021 May 1 doi: 10.1016/j.knee.2021.04.006. PMID: 33945980
Kesireddy N, Kheireldin RK, Lu A, Cooper J, Liu J, Ebraheim NA
J Pediatr Orthop B 2018 Nov;27(6):541-550. doi: 10.1097/BPB.0000000000000524. PMID: 29878977

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