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Symphalangism affecting the phalanges of the toes

MedGen UID:
869556
•Concept ID:
C4023984
•
Anatomical Abnormality
Synonym: Fused toe bones
 
HPO: HP:0010179

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSymphalangism affecting the phalanges of the toes

Recent clinical studies

Etiology

Clinical characteristics of 93 cases of isolated macrodactyly of the foot in children.
Chen W, Tian X, Chen L, Huang W
J Orthop Surg Res 2021 Feb 8;16(1):121. doi: 10.1186/s13018-020-02196-2. PMID: 33557883Free PMC Article
Symphalangism in children. Case report and review of the literature.
Letts M, Davidson D, Beaulé P
Clin Orthop Relat Res 1999 Sep;(366):178-85. PMID: 10627733
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M
J Med Genet 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. PMID: 7666393Free PMC Article
Characteristics of the limb malformations induced by maternal exposure to cadmium in the mouse.
Padmanabhan R, Hameed MS
Reprod Toxicol 1990;4(4):291-304. doi: 10.1016/0890-6238(90)90041-s. PMID: 1726510

Diagnosis

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J
Mol Genet Genomic Med 2024 Jan;12(1):e2319. Epub 2023 Nov 27 doi: 10.1002/mgg3.2319. PMID: 38013226Free PMC Article
Hypothesis: Symbrachydactyly.
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?
Nakashima T, Ganaha A, Tsumagari S, Nakamura T, Yamada Y, Nakamura E, Usami SI, Tono T
ORL J Otorhinolaryngol Relat Spec 2021;83(3):196-202. Epub 2021 Feb 15 doi: 10.1159/000512668. PMID: 33588412
Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.
Zhang M, Lu L, Wei B, Zhang Y, Li X, Shi Y, Ge W, Sun M
Am J Med Genet A 2020 Oct;182(10):2432-2436. Epub 2020 Aug 13 doi: 10.1002/ajmg.a.61788. PMID: 32789964
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
Hettiaracchchi D, Bonnard C, Jayawardana SMA, Ng AYJ, Tohari S, Venkatesh B, Reversade B, Singaraja R, Dissanayake VHW
BMC Med Genet 2018 Jul 24;19(1):125. doi: 10.1186/s12881-018-0646-1. PMID: 30041615Free PMC Article

Prognosis

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J
Mol Genet Genomic Med 2024 Jan;12(1):e2319. Epub 2023 Nov 27 doi: 10.1002/mgg3.2319. PMID: 38013226Free PMC Article
Clinical characteristics of 93 cases of isolated macrodactyly of the foot in children.
Chen W, Tian X, Chen L, Huang W
J Orthop Surg Res 2021 Feb 8;16(1):121. doi: 10.1186/s13018-020-02196-2. PMID: 33557883Free PMC Article
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R
Eur J Med Genet 2017 Aug;60(8):421-425. Epub 2017 May 27 doi: 10.1016/j.ejmg.2017.05.004. PMID: 28559208
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P
Am J Med Genet 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. PMID: 11977163
Symphalangism in children. Case report and review of the literature.
Letts M, Davidson D, Beaulé P
Clin Orthop Relat Res 1999 Sep;(366):178-85. PMID: 10627733

Clinical prediction guides

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J
Mol Genet Genomic Med 2024 Jan;12(1):e2319. Epub 2023 Nov 27 doi: 10.1002/mgg3.2319. PMID: 38013226Free PMC Article
Clinical characteristics of 93 cases of isolated macrodactyly of the foot in children.
Chen W, Tian X, Chen L, Huang W
J Orthop Surg Res 2021 Feb 8;16(1):121. doi: 10.1186/s13018-020-02196-2. PMID: 33557883Free PMC Article
A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?
Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N
Am J Med Genet 2002 Apr 15;109(1):56-60. PMID: 11932993
Macrodystrophia lipomatosa: radiographic observations.
Gupta SK, Sharma OP, Sharma SV, Sood B, Gupta S
Br J Radiol 1992 Sep;65(777):769-73. doi: 10.1259/0007-1285-65-777-769. PMID: 1393412
Characteristics of the limb malformations induced by maternal exposure to cadmium in the mouse.
Padmanabhan R, Hameed MS
Reprod Toxicol 1990;4(4):291-304. doi: 10.1016/0890-6238(90)90041-s. PMID: 1726510

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