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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.
Autosomal dominant inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
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
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.
See: Feature record | Search on this feature
Short 2nd finger
MedGen UID:
396302
•Concept ID:
C1862142
•
Finding
Hypoplasia of the second finger, also known as the index finger.
See: Feature record | Search on this feature
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 middle fingers as far as oligo- or monodactyl hands.
See: Feature record | Search on this feature
Short 3rd toe
MedGen UID:
867268
•Concept ID:
C4021628
•
Anatomical Abnormality
Underdevelopment (hypoplasia) of the third toe.
See: Feature record | Search on this feature

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

Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis.
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

Congenital Disorders of the Pediatric Thumb.
Nguyen JL, Ho CA
JBJS Rev 2022 Mar 1;10(3) doi: 10.2106/JBJS.RVW.21.00147. PMID: 35230999
Triphalangeal thumb in association with split hand/foot: a phenotypic marker for SHFM3?
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
Biphalangeal fifth toe.
Dereymaeker G, van der Broek C
Foot Ankle Int 2006 Nov;27(11):948-51. doi: 10.1177/107110070602701114. PMID: 17144958
Townes-Brocks syndrome.
König R, Schick U, Fuchs S
Eur J Pediatr 1990 Dec;150(2):100-3. doi: 10.1007/BF02072048. PMID: 2279502
The neurofaciodigitorenal (NFDR) syndrome.
Freire-Maia N, Pinheiro M, Opitz JM
Am J Med Genet 1982 Mar;11(3):329-36. doi: 10.1002/ajmg.1320110309. PMID: 7081297

Diagnosis

Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.
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
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
Dai L, Guo H, Meng H, Zhang K, Hu H, Yao H, Bai Y
Eur J Pediatr 2013 Nov;172(11):1467-73. Epub 2013 Jun 22 doi: 10.1007/s00431-013-2071-y. PMID: 23793141
Triphalangeal thumb in association with split hand/foot: a phenotypic marker for SHFM3?
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
Townes-Brocks syndrome.
Powell CM, Michaelis RC
J Med Genet 1999 Feb;36(2):89-93. PMID: 10051003Free PMC Article
Triphalangeal thumb.
Qazi Q, Kassner EG
J Med Genet 1988 Aug;25(8):505-20. doi: 10.1136/jmg.25.8.505. PMID: 3050097Free PMC Article

Therapy

Plate fixation of extra-articular fractures of the proximal phalanx: do new implants cause less problems?
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
Aase-Smith syndrome type II.
Soker M, Ayyildiz O, Isikdogan A
Saudi Med J 2004 Dec;25(12):2004-6. PMID: 15711686
Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb.
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
Congenital malformations associated with maternal use of valproic acid.
Huot C, Gauthier M, Lebel M, Larbrisseau A
Can J Neurol Sci 1987 Aug;14(3):290-3. doi: 10.1017/s0317167100026639. PMID: 3117346
The Aase syndrome in a female infant.
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

Prognosis

A multidisciplinary review of triphalangeal thumb.
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
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC
Eur J Med Genet 2016 Feb;59(2):80-5. Epub 2016 Jan 11 doi: 10.1016/j.ejmg.2015.12.015. PMID: 26791099
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A
Hum Mutat 2012 Jul;33(7):1063-6. Epub 2012 May 11 doi: 10.1002/humu.22097. PMID: 22495965Free PMC Article
Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
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
Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.
Hoffman HM, Bastian JF, Bird LM
Clin Dysmorphol 2001 Jan;10(1):1-8. doi: 10.1097/00019605-200101000-00001. PMID: 11152140

Clinical prediction guides

A multidisciplinary review of triphalangeal thumb.
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
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC
Eur J Med Genet 2016 Feb;59(2):80-5. Epub 2016 Jan 11 doi: 10.1016/j.ejmg.2015.12.015. PMID: 26791099
Laurin-Sandrow syndrome with additional associated manifestations.
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
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome).
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
Acrofacial dysostoses.
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

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