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Bilateral triphalangeal thumbs

MedGen UID:
867267
Concept ID:
C4021627
Congenital Abnormality
Synonyms: Bilateral digitalized thumb; Bilateral triphalangeal thumb; Triphalangeal deformity of bilateral thumbs; Triphalangeal deformity of both thumbs
SNOMED CT: Triphalangeal deformity of bilateral thumbs (897523003); Bilateral triphalangeal thumb (897523003); Triphalangeal deformity of both thumbs (897523003)
 
HPO: HP:0005707

Definition

A bilateral form of triphalangeal thumb. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Bilateral triphalangeal thumbs

Conditions with this feature

Autosomal dominant deafness - onychodystrophy syndrome
MedGen UID:
382676
Concept ID:
C2675730
Disease or Syndrome
The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962). See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
MedGen UID:
1788511
Concept ID:
C5543496
Disease or Syndrome
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins (summary by Salian et al., 2021). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). See also DOORS syndrome (220500), which shows some overlapping clinical features.
LADD syndrome 1
MedGen UID:
1824096
Concept ID:
C5774323
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.

Professional guidelines

PubMed

Wang AA, Hutchinson DT
J Pediatr Orthop 2015 Jul-Aug;35(5):474-7. doi: 10.1097/BPO.0000000000000319. PMID: 25264557
Canún S, Lomelí RM, Martínez R, Carnevale A
Clin Genet 1984 Feb;25(2):182-6. doi: 10.1111/j.1399-0004.1984.tb00482.x. PMID: 6705252

Recent clinical studies

Etiology

Nguyen JL, Ho CA
JBJS Rev 2022 Mar 1;10(3) doi: 10.2106/JBJS.RVW.21.00147. PMID: 35230999
Wang AA, Hutchinson DT
J Pediatr Orthop 2015 Jul-Aug;35(5):474-7. doi: 10.1097/BPO.0000000000000319. PMID: 25264557
Zuidam JM, de Kraker M, Selles RW, Hovius SE
J Hand Surg Am 2010 Jul;35(7):1146-52. Epub 2010 Jun 19 doi: 10.1016/j.jhsa.2010.03.033. PMID: 20561755
Zuidam JM, Ananta M, Hovius SE
J Plast Reconstr Aesthet Surg 2008 Sep;61(9):1078-84. Epub 2007 Sep 5 doi: 10.1016/j.bjps.2007.02.034. PMID: 17822968
Elliott AM, Reed MH, Evans JA
Birth Defects Res A Clin Mol Teratol 2007 Jan;79(1):58-61. doi: 10.1002/bdra.20317. PMID: 17120235

Diagnosis

Pedrazzini A, Pogliacomi F, Colacicco A, Galavotti C, De Filippo M, Tocco S, Ceccarelli F
Acta Biomed 2015 Dec 15;86(3):290-5. PMID: 26694158
Calcia A, Gai G, Di Gregorio E, Talarico F, Naretto VG, Migone N, Pepe E, Grosso E, Brusco A
Am J Med Genet A 2013 Oct;161A(10):2656-62. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36146. PMID: 24038848
Zuidam JM, de Kraker M, Selles RW, Hovius SE
J Hand Surg Am 2010 Jul;35(7):1146-52. Epub 2010 Jun 19 doi: 10.1016/j.jhsa.2010.03.033. PMID: 20561755
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764
Canún S, Lomelí RM, Martínez R, Carnevale A
Clin Genet 1984 Feb;25(2):182-6. doi: 10.1111/j.1399-0004.1984.tb00482.x. PMID: 6705252

Therapy

Wang AA, Hutchinson DT
J Pediatr Orthop 2015 Jul-Aug;35(5):474-7. doi: 10.1097/BPO.0000000000000319. PMID: 25264557

Prognosis

Wu PF, Guo S, Fan XF, Fan LL, Jin JY, Tang JY, Xiang R
Cytogenet Genome Res 2016;149(3):171-175. Epub 2016 Sep 3 doi: 10.1159/000448820. PMID: 27592358
Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A
Am J Med Genet A 2005 May 1;134(4):439-42. doi: 10.1002/ajmg.a.30660. PMID: 15810003
Salerno A, Kohlhase J, Kaplan BS
Pediatr Nephrol 2000 Jan;14(1):25-8. doi: 10.1007/s004670050006. PMID: 10654325
Lai MM, Spencer JD, Montandon JA, Berry AC
J Med Genet 1991 Jul;28(7):497-8. doi: 10.1136/jmg.28.7.497. PMID: 1895323Free PMC Article

Clinical prediction guides

Wu PF, Guo S, Fan XF, Fan LL, Jin JY, Tang JY, Xiang R
Cytogenet Genome Res 2016;149(3):171-175. Epub 2016 Sep 3 doi: 10.1159/000448820. PMID: 27592358
Zuidam JM, de Kraker M, Selles RW, Hovius SE
J Hand Surg Am 2010 Jul;35(7):1146-52. Epub 2010 Jun 19 doi: 10.1016/j.jhsa.2010.03.033. PMID: 20561755
Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA
Clin Genet 2009 Jul;76(1):85-90. Epub 2009 Jun 9 doi: 10.1111/j.1399-0004.2009.01192.x. PMID: 19519794
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764
Silengo MC, Biagioli M, Bell GL, Bona G, Franceschini P
Clin Genet 1987 Jan;31(1):13-8. doi: 10.1111/j.1399-0004.1987.tb02761.x. PMID: 3568429

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