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Abnormal 5th metacarpal morphology

MedGen UID:
869682
•Concept ID:
C4024110
•
Anatomical Abnormality
Synonyms: Abnormality of the 5th long bone of hand; Abnormality of the 5th metacarpal
 
HPO: HP:0010013

Definition

Any abnormality of the fifth metacarpal bone. [from HPO]

Recent clinical studies

Etiology

Variation in the hypothenar muscles and its impact on ulnar tunnel syndrome.
Claassen H, Schmitt O, Schulze M, Wree A
Surg Radiol Anat 2013 Dec;35(10):893-9. Epub 2013 Apr 5 doi: 10.1007/s00276-013-1113-5. PMID: 23558800
Brachymetacarpia V in familial short stature.
Sükür M, Darendeliler F, Bundak R, Baş F, Saka N, Günöz H
Ann Hum Biol 1997 Jul-Aug;24(4):371-5. doi: 10.1080/03014469700005122. PMID: 9239443

Diagnosis

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.
Liu ZH, Zhou SC, Du JW, Zhang K, Wu T
BMC Endocr Disord 2020 Mar 24;20(1):42. doi: 10.1186/s12902-020-0523-8. PMID: 32209072Free PMC Article
Ophthalmo-acromelic syndrome in an infant.
Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE
Eur J Med Genet 2019 Jul;62(7):103664. Epub 2019 May 5 doi: 10.1016/j.ejmg.2019.05.003. PMID: 31067494
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A
Eur J Med Genet 2019 Nov;62(11):103578. Epub 2018 Nov 13 doi: 10.1016/j.ejmg.2018.11.012. PMID: 30445150
Variation in the hypothenar muscles and its impact on ulnar tunnel syndrome.
Claassen H, Schmitt O, Schulze M, Wree A
Surg Radiol Anat 2013 Dec;35(10):893-9. Epub 2013 Apr 5 doi: 10.1007/s00276-013-1113-5. PMID: 23558800
Insulin resistance Type A and short 5th metacarpals.
Patel VK, Davies HA
Diabet Med 2003 Jun;20(6):500-4. doi: 10.1046/j.1464-5491.2003.00982.x. PMID: 12786688

Therapy

Pseudoaminopterin syndrome: clinical report with new characteristics.
Sobreira N, Cernach M, Batista D, Brunoni D, Perez A
Am J Med Genet A 2009 Dec;149A(12):2843-8. doi: 10.1002/ajmg.a.33125. PMID: 19938091
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.
Liu ZH, Zhou SC, Du JW, Zhang K, Wu T
BMC Endocr Disord 2020 Mar 24;20(1):42. doi: 10.1186/s12902-020-0523-8. PMID: 32209072Free PMC Article
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A
Eur J Med Genet 2019 Nov;62(11):103578. Epub 2018 Nov 13 doi: 10.1016/j.ejmg.2018.11.012. PMID: 30445150

Clinical prediction guides

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.
Liu ZH, Zhou SC, Du JW, Zhang K, Wu T
BMC Endocr Disord 2020 Mar 24;20(1):42. doi: 10.1186/s12902-020-0523-8. PMID: 32209072Free PMC Article
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A
Eur J Med Genet 2019 Nov;62(11):103578. Epub 2018 Nov 13 doi: 10.1016/j.ejmg.2018.11.012. PMID: 30445150
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.
Jarzabek K, Wolczynski S, Lesniewicz R, Plessis G, Kottler ML
Adv Med Sci 2012;57(2):314-21. doi: 10.2478/v10039-012-0036-4. PMID: 23154428
Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.
Mendioroz J, Fernández-Toral J, Suárez E, López-Grondona F, Kjaer KW, Bermejo E, Martínez-Frías ML
Am J Med Genet A 2005 Jun 1;135(2):211-3. doi: 10.1002/ajmg.a.30728. PMID: 15887301
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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