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Aplasia of the 5th finger

MedGen UID:
870077
•Concept ID:
C4024508
•
Finding
Synonyms: Absent little finger; Absent pinkie finger; Absent pinky finger
 
HPO: HP:0009238

Definition

Absent 5th (little) finger. [from HPO]

Conditions with this feature

Ulnar-mammary syndrome
MedGen UID:
357886
•Concept ID:
C1866994
•
Disease or Syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
See: Condition Record
Ulnar-mammary syndrome

Professional guidelines

PubMed

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.
Shangguan H, Wang J, Lin J, Huang X, Zeng Y, Chen R
Eur J Pediatr 2024 Mar;183(3):1403-1414. Epub 2024 Jan 3 doi: 10.1007/s00431-023-05385-3. PMID: 38170291
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554Free PMC Article
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):262-75. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31407. PMID: 25168959

Recent clinical studies

Etiology

Classification for Thumb Opposition in Children with Thumb Hypoplasia.
Vergara-Amador E, Herrera-Rodríguez J, López-Rincón L
J Hand Surg Asian Pac Vol 2021 Jun;26(2):214-217. doi: 10.1142/S242483552150020X. PMID: 33928854
Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children.
Williams KD, Nahhas RW, Cottom CR, Lawrence S, Subedi J, Jha B, Czerwinski SA, Blangero J, Williams-Blangero S, Towne B
Am J Hum Biol 2012 Jan-Feb;24(1):68-73. Epub 2011 Dec 1 doi: 10.1002/ajhb.22205. PMID: 22131202Free PMC Article
Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.
Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984
Quantification of early subclinical limited joint mobility in diabetes mellitus.
Slama G, Letanoux M, Thibult N, Goldgewicht C, Eschwege E, Tchobroutsky G
Diabetes Care 1985 Jul-Aug;8(4):329-32. doi: 10.2337/diacare.8.4.329. PMID: 4042798
Joint contractures and scleroderma-like skin changes in the hands of insulin-dependent juvenile diabetics.
Garza-Elizondo MA, Diaz-Jouanen E, Franco-Casique JJ, Alarcón-Segovia D
J Rheumatol 1983 Oct;10(5):797-800. PMID: 6644703

Diagnosis

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.
Shangguan H, Wang J, Lin J, Huang X, Zeng Y, Chen R
Eur J Pediatr 2024 Mar;183(3):1403-1414. Epub 2024 Jan 3 doi: 10.1007/s00431-023-05385-3. PMID: 38170291
MRI of Transcallosal White Matter Helps to Predict Motor Impairment in Multiple Sclerosis.
Cordani C, Preziosa P, Valsasina P, Meani A, Pagani E, Morozumi T, Rocca MA, Filippi M
Radiology 2022 Mar;302(3):639-649. Epub 2021 Nov 30 doi: 10.1148/radiol.2021210922. PMID: 34846201
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL
BMC Med Genet 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. PMID: 31694554Free 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
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. PMID: 27900361Free PMC Article

Therapy

MRI of Transcallosal White Matter Helps to Predict Motor Impairment in Multiple Sclerosis.
Cordani C, Preziosa P, Valsasina P, Meani A, Pagani E, Morozumi T, Rocca MA, Filippi M
Radiology 2022 Mar;302(3):639-649. Epub 2021 Nov 30 doi: 10.1148/radiol.2021210922. PMID: 34846201
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
Olmsted syndrome.
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome.
Cannavò S, Bartolone L, Lapa D, Venturino M, Almoto B, Violi A, Trimarchi F
J Endocrinol Invest 2002 Jan;25(1):58-64. doi: 10.1007/BF03343962. PMID: 11883867
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

MRI of Transcallosal White Matter Helps to Predict Motor Impairment in Multiple Sclerosis.
Cordani C, Preziosa P, Valsasina P, Meani A, Pagani E, Morozumi T, Rocca MA, Filippi M
Radiology 2022 Mar;302(3):639-649. Epub 2021 Nov 30 doi: 10.1148/radiol.2021210922. PMID: 34846201
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004200. PMID: 31167805Free PMC Article
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. PMID: 27900361Free PMC Article
The prevalence of the extensor digitorum communis tendon and its insertion variants: a systematic review and meta-analysis.
Yammine K
Clin Anat 2014 Nov;27(8):1284-90. Epub 2014 Jun 23 doi: 10.1002/ca.22429. PMID: 24953717
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.
Abdelgadir D, Nowaczyk MJ, Li C
Am J Med Genet A 2013 May;161A(5):1126-31. Epub 2013 Mar 25 doi: 10.1002/ajmg.a.35812. PMID: 23529842

Clinical prediction guides

MRI of Transcallosal White Matter Helps to Predict Motor Impairment in Multiple Sclerosis.
Cordani C, Preziosa P, Valsasina P, Meani A, Pagani E, Morozumi T, Rocca MA, Filippi M
Radiology 2022 Mar;302(3):639-649. Epub 2021 Nov 30 doi: 10.1148/radiol.2021210922. PMID: 34846201
Classification for Thumb Opposition in Children with Thumb Hypoplasia.
Vergara-Amador E, Herrera-Rodríguez J, López-Rincón L
J Hand Surg Asian Pac Vol 2021 Jun;26(2):214-217. doi: 10.1142/S242483552150020X. PMID: 33928854
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004200. PMID: 31167805Free PMC Article
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. PMID: 27900361Free PMC Article
HOXA genes cluster: clinical implications of the smallest deletion.
Pezzani L, Milani D, Manzoni F, Baccarin M, Silipigni R, Guerneri S, Esposito S
Ital J Pediatr 2015 Apr 10;41:31. doi: 10.1186/s13052-015-0137-3. PMID: 25881986Free PMC Article

Recent systematic reviews

The prevalence of the extensor digitorum communis tendon and its insertion variants: a systematic review and meta-analysis.
Yammine K
Clin Anat 2014 Nov;27(8):1284-90. Epub 2014 Jun 23 doi: 10.1002/ca.22429. PMID: 24953717

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