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Finger hyperphalangy

MedGen UID:
892886
•Concept ID:
C4072906
•
Anatomical Abnormality
HPO: HP:0030367

Definition

Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. [from HPO]

Recent clinical studies

Etiology

Catel-Manzke syndrome: two new patients and a critical review of the literature.
Manzke H, Lehmann K, Klopocki E, Caliebe A
Eur J Med Genet 2008 Sep-Oct;51(5):452-65. Epub 2008 Apr 11 doi: 10.1016/j.ejmg.2008.03.005. PMID: 18501694

Diagnosis

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Boschann F, Stuurman KE, de Bruin C, van Slegtenhorst M, van Duyvenvoorde HA, Kant SG, Ehmke N
Am J Med Genet A 2020 Mar;182(3):431-436. Epub 2019 Nov 25 doi: 10.1002/ajmg.a.61419. PMID: 31769200
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Seo SH, Park MJ, Kim SH, Kim OH, Park S, Cho SI, Park SS, Seong MW
Ann Lab Med 2013 Mar;33(2):150-2. Epub 2013 Feb 21 doi: 10.3343/alm.2013.33.2.150. PMID: 23483675Free PMC Article
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
Gutiérrez-Amavizca BE, Brambila-Tapia AJ, Juárez-Vázquez CI, Holder-Espinasse M, Manouvrier-Hanu S, Escande F, Barros-Núñez P
Eur J Med Genet 2012 Nov;55(11):611-4. Epub 2012 Jul 22 doi: 10.1016/j.ejmg.2012.07.004. PMID: 22828468
Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect.
Petit P, Moerman P, Legius E, Fryns JP
Genet Couns 1994;5(4):381-5. PMID: 7888142
Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?
Wilson GN, King TE, Brookshire GS
Am J Med Genet 1993 Apr 15;46(2):176-9. doi: 10.1002/ajmg.1320460215. PMID: 8484405

Prognosis

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S
Am J Hum Genet 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004. PMID: 25480037Free PMC Article
Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family.
Kantaputra PN, Sumitsawan Y, Schutte BC, Tochareontanaphol C
Am J Med Genet 2002 Apr 1;108(4):275-80. doi: 10.1002/ajmg.10276. PMID: 11920830

Clinical prediction guides

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S
Am J Hum Genet 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004. PMID: 25480037Free PMC Article
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Seo SH, Park MJ, Kim SH, Kim OH, Park S, Cho SI, Park SS, Seong MW
Ann Lab Med 2013 Mar;33(2):150-2. Epub 2013 Feb 21 doi: 10.3343/alm.2013.33.2.150. PMID: 23483675Free PMC Article

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