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Triphalangeal thumbs-brachyectrodactyly syndrome

MedGen UID:
348710
Concept ID:
C1860804
Disease or Syndrome
Synonyms: Triphalangeal thumb and brachyectrodactyly syndrome; Triphalangeal thumbs brachyectrodactyly; TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY
SNOMED CT: Triphalangeal thumb with brachyectrodactyly syndrome (719951002); Carnevale Hernandez del Castillo syndrome (719951002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0008607
OMIM®: 190680
Orphanet: ORPHA2947

Definition

This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. [from SNOMEDCT_US]

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
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.
Split foot
MedGen UID:
140919
Concept ID:
C0432028
Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Short 2nd finger
MedGen UID:
396302
Concept ID:
C1862142
Finding
Hypoplasia of the second finger, also known as the index finger.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Short 3rd toe
MedGen UID:
867268
Concept ID:
C4021628
Anatomical Abnormality
Underdevelopment (hypoplasia) of the third toe.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTriphalangeal thumbs-brachyectrodactyly syndrome
Follow this link to review classifications for Triphalangeal thumbs-brachyectrodactyly syndrome in Orphanet.

Professional guidelines

PubMed

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
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
Dereymaeker G, van der Broek C
Foot Ankle Int 2006 Nov;27(11):948-51. doi: 10.1177/107110070602701114. PMID: 17144958
König R, Schick U, Fuchs S
Eur J Pediatr 1990 Dec;150(2):100-3. doi: 10.1007/BF02072048. PMID: 2279502
Freire-Maia N, Pinheiro M, Opitz JM
Am J Med Genet 1982 Mar;11(3):329-36. doi: 10.1002/ajmg.1320110309. PMID: 7081297

Therapy

Brei-Thoma P, Vögelin E, Franz T
Arch Orthop Trauma Surg 2015 Mar;135(3):439-45. Epub 2015 Jan 11 doi: 10.1007/s00402-015-2155-4. PMID: 25577241
Soker M, Ayyildiz O, Isikdogan A
Saudi Med J 2004 Dec;25(12):2004-6. PMID: 15711686
Zguricas J, Dijkstra PF, Gelsema ES, Snijders PJ, Wüstefeld HP, Venema HW, Hovius SE, Lindhout D
J Med Genet 1997 Jan;34(1):55-62. doi: 10.1136/jmg.34.1.55. PMID: 9032651Free PMC Article
Huot C, Gauthier M, Lebel M, Larbrisseau A
Can J Neurol Sci 1987 Aug;14(3):290-3. doi: 10.1017/s0317167100026639. PMID: 3117346
Higginbottom MC, Jones KL, Kung FH, Koch TK, Boyer JL
J Med Genet 1978 Dec;15(6):484-6. doi: 10.1136/jmg.15.6.484. PMID: 745221Free PMC Article

Clinical prediction guides

Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
J Hand Surg Eur Vol 2019 Jan;44(1):59-68. Epub 2018 Oct 14 doi: 10.1177/1753193418803521. PMID: 30318985Free PMC Article
Kantaputra PN
Am J Med Genet 2001 Jan 22;98(3):210-5. doi: 10.1002/1096-8628(20010122)98:3<210::aid-ajmg1085>3.0.co;2-7. PMID: 11169557
Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE
N Engl J Med 1994 Mar 31;330(13):885-91. doi: 10.1056/NEJM199403313301302. PMID: 8114858
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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