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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]

Conditions with this feature

Chitayat syndrome
MedGen UID:
934646
•Concept ID:
C4310679
•
Disease or Syndrome
Chitayat syndrome (CHYTS) is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).
See: Condition Record
Chitayat syndrome

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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