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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Short tibia
MedGen UID:
338005
•Concept ID:
C1850259
•
Finding
Underdevelopment (reduced size) of the tibia.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Absent tibia
MedGen UID:
478374
•Concept ID:
C3276744
•
Finding
Absence of the tibia.
See: Feature record | Search on this feature

Term Hierarchy

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

Professional guidelines

PubMed

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
Shen F, Yang Y, Li P, Zheng Y, Luo Z, Fu Y, Zhu G, Mei H, Chen S, Zhu Y
Mol Genet Genomic Med 2022 Jan;10(1):e1850. Epub 2021 Dec 24 doi: 10.1002/mgg3.1850. PMID: 34953066Free PMC Article
Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.
Bedoya MA, Chauvin NA, Jaramillo D, Davidson R, Horn BD, Ho-Fung V
Radiographics 2015 Jul-Aug;35(4):1191-207. doi: 10.1148/rg.2015140196. PMID: 26172360
Torsion--treatment indications.
Staheli LT
Clin Orthop Relat Res 1989 Oct;(247):61-6. PMID: 2676305

Recent clinical studies

Etiology

Blount disease.
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
Polydactyly, postaxial, type B.
Holmes LB, Nasri H, Hunt AT, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):134-141. doi: 10.1002/bdr2.1184. PMID: 29377639
Idiopathic hemihypertrophy.
Mohanna MA, Sallam AK
Saudi Med J 2014 Apr;35(4):403-5. PMID: 24749139
Polydactyly: a review.
Guo B, Lee SK, Paksima N
Bull Hosp Jt Dis (2013) 2013;71(1):17-23. PMID: 24032579
Blount disease.
Sabharwal S
J Bone Joint Surg Am 2009 Jul;91(7):1758-76. doi: 10.2106/JBJS.H.01348. PMID: 19571101

Diagnosis

Update of surgical treatment of polydactyly.
Tawfeeq Y, Hendry JM, Wood KS
Curr Opin Pediatr 2023 Feb 1;35(1):124-130. Epub 2022 Nov 22 doi: 10.1097/MOP.0000000000001204. PMID: 36412268
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Polydactyly: A Review.
Farrugia MC, Calleja-Agius J
Neonatal Netw 2016;35(3):135-42. doi: 10.1891/0730-0832.35.3.135. PMID: 27194607
Polydactyly: a review.
Guo B, Lee SK, Paksima N
Bull Hosp Jt Dis (2013) 2013;71(1):17-23. PMID: 24032579
Educational paper: ciliopathies.
Bergmann C
Eur J Pediatr 2012 Sep;171(9):1285-300. Epub 2011 Sep 7 doi: 10.1007/s00431-011-1553-z. PMID: 21898032Free PMC Article

Therapy

Thalidomide and neurotrophism.
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
Percutaneous Pediatric Foot and Ankle Surgery.
Uglow MG
Foot Ankle Clin 2016 Sep;21(3):577-94. Epub 2016 Jun 29 doi: 10.1016/j.fcl.2016.04.005. PMID: 27524707
Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Teratogen-induced limb defects.
Holmes LB
Am J Med Genet 2002 Oct 15;112(3):297-303. doi: 10.1002/ajmg.10781. PMID: 12357474
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

Patellar Instability.
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
Forefoot malformations, deformities and other congenital defects in children.
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
Congenital Tibial Deficiency.
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
Blount disease.
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
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article

Clinical prediction guides

Patellar Instability.
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
Congenital Tibial Deficiency.
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
Thalidomide and neurotrophism.
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
Blount disease.
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
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421

Recent systematic reviews

Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.
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
The molecular genetics of human appendicular skeleton.
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
Over one third of patients with symptomatic femoroacetabular impingement display femoral or acetabular version abnormalities.
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
Current treatment of congenital pseudarthrosis of the tibia: a systematic review and meta-analysis.
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
Acute versus gradual correction of idiopathic tibia vara in children: a systematic review.
Gilbody J, Thomas G, Ho K
J Pediatr Orthop 2009 Mar;29(2):110-4. doi: 10.1097/BPO.0b013e31819849aa. PMID: 19352233

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