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Aplasia of the middle phalanx of the hand

MedGen UID:
349429
•Concept ID:
C1862096
•
Finding
Synonyms: Absent middle phalanges; Missing middle phalanges
 
HPO: HP:0010239

Definition

Absence of one or more middle phalanx of a finger. [from HPO]

Conditions with this feature

Heart-hand syndrome, Slovenian type
MedGen UID:
341859
•Concept ID:
C1857829
•
Disease or Syndrome
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
See: Condition Record
MEGF8-related Carpenter syndrome
MedGen UID:
767161
•Concept ID:
C3554247
•
Disease or Syndrome
Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000.
See: Condition Record
Heart-hand syndrome, Slovenian type
MEGF8-related Carpenter syndrome

Professional guidelines

PubMed

Metacarpal synostosis: treatment with a longitudinal osteotomy and bone graft substitute interposition.
Gottschalk HP, Bednar MS, Moor M, Light TR
J Hand Surg Am 2012 Oct;37(10):2074-81. Epub 2012 Sep 5 doi: 10.1016/j.jhsa.2012.06.021. PMID: 22960030
The hand profile on de Lange syndrome: diagnostic criteria.
Halal F, Preus M
Am J Med Genet 1979;3(4):317-23. doi: 10.1002/ajmg.1320030402. PMID: 474631

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
Cartilage abnormalities and osteophytes in the fingers of elite sport climbers: An ultrasonography-based cross-sectional study.
Pastor T, Fröhlich S, Spörri J, Schreiber T, Schweizer A
Eur J Sport Sci 2020 Mar;20(2):269-276. Epub 2019 Jun 20 doi: 10.1080/17461391.2019.1631389. PMID: 31184978
Physiolysis for correction of clinodactyly with delta phalanx: Early improvement.
El Sayed L, Salon A, Glorion C, Guero S
Hand Surg Rehabil 2019 Apr;38(2):125-128. Epub 2019 Feb 16 doi: 10.1016/j.hansur.2018.12.002. PMID: 30782503
Phalangeal microgeodic syndrome in childhood.
Yang YZ, Ma XH, Yang XH, Gu WZ, Jin WY, Zhao ZY
Pediatr Radiol 2018 Aug;48(8):1108-1112. Epub 2018 May 7 doi: 10.1007/s00247-018-4137-5. PMID: 29736770
Chondrosarcomas of the hands and feet: A case series and systematic review of the literature.
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572

Diagnosis

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
Hypothesis: Central digit hypoplasia.
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Jun;188(6):1746-1751. Epub 2022 Mar 2 doi: 10.1002/ajmg.a.62697. PMID: 35234329
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Chondrosarcomas of the hands and feet: A case series and systematic review of the literature.
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572
Evaluation of function and appearance of adults with untreated triphalangeal thumbs.
Zuidam JM, de Kraker M, Selles RW, Hovius SE
J Hand Surg Am 2010 Jul;35(7):1146-52. Epub 2010 Jun 19 doi: 10.1016/j.jhsa.2010.03.033. PMID: 20561755

Therapy

Fingerprint changes and verification failure among patients with hand dermatitis.
Lee CK, Chang CC, Johar A, Puwira O, Roshidah B
JAMA Dermatol 2013 Mar;149(3):295-9. doi: 10.1001/jamadermatol.2013.1425. PMID: 23682364
Metacarpal synostosis: treatment with a longitudinal osteotomy and bone graft substitute interposition.
Gottschalk HP, Bednar MS, Moor M, Light TR
J Hand Surg Am 2012 Oct;37(10):2074-81. Epub 2012 Sep 5 doi: 10.1016/j.jhsa.2012.06.021. PMID: 22960030
The dorsal approach to silicone implant arthroplasty of the proximal interphalangeal joint.
Bickel KD
J Hand Surg Am 2007 Jul-Aug;32(6):909-13. doi: 10.1016/j.jhsa.2007.04.013. PMID: 17606076
Extrasynovial ultrasound abnormalities in the psoriatic finger. Prospective comparative power-doppler study versus rheumatoid arthritis.
Fournié B, Margarit-Coll N, Champetier de Ribes TL, Zabraniecki L, Jouan A, Vincent V, Chiavassa H, Sans N, Railhac JJ
Joint Bone Spine 2006 Oct;73(5):527-31. Epub 2006 Apr 19 doi: 10.1016/j.jbspin.2006.01.019. PMID: 16942893
Regeneration of an enchondroma defect under the influence of an implant of human bone morphogenetic protein.
Urist MR, Kovacs S, Yates KA
J Hand Surg Am 1986 May;11(3):417-9. doi: 10.1016/s0363-5023(86)80153-8. PMID: 3711617

Prognosis

Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.
Ozyavuz Cubuk P, Duz MB
Eur J Med Genet 2021 Nov;64(11):104343. Epub 2021 Sep 14 doi: 10.1016/j.ejmg.2021.104343. PMID: 34530144
The utility of ultrasonographic bone age determination in detecting growth disturbances; a comparative study with the conventional radiographic technique.
Hajalioghli P, Tarzamni MK, Arami S, Fouladi DF, Ghojazadeh M
Skeletal Radiol 2015 Sep;44(9):1351-6. Epub 2015 May 31 doi: 10.1007/s00256-015-2175-8. PMID: 26025121
Non-vascularized free toe phalanx transfers in congenital hand deformities--the Great Ormond Street experience.
Cavallo AV, Smith PJ, Morley S, Morsi AW
J Hand Surg Br 2003 Dec;28(6):520-7. doi: 10.1016/s0266-7681(03)00084-6. PMID: 14599822
Anatomic variations in sensory innervation of the hand and digits.
Bas H, Kleinert JM
J Hand Surg Am 1999 Nov;24(6):1171-84. doi: 10.1053/jhsu.1999.1171. PMID: 10584938
Abductor digiti quinti opponensplasty.
Wissinger HA, Singsen EG
J Bone Joint Surg Am 1977 Oct;59(7):895-8. PMID: 198410

Clinical prediction guides

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
Cartilage abnormalities and osteophytes in the fingers of elite sport climbers: An ultrasonography-based cross-sectional study.
Pastor T, Fröhlich S, Spörri J, Schreiber T, Schweizer A
Eur J Sport Sci 2020 Mar;20(2):269-276. Epub 2019 Jun 20 doi: 10.1080/17461391.2019.1631389. PMID: 31184978
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Phalangeal microgeodic syndrome in childhood.
Yang YZ, Ma XH, Yang XH, Gu WZ, Jin WY, Zhao ZY
Pediatr Radiol 2018 Aug;48(8):1108-1112. Epub 2018 May 7 doi: 10.1007/s00247-018-4137-5. PMID: 29736770
MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome.
Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L
Am J Med Genet 1997 Aug 22;71(3):251-7. doi: 10.1002/(sici)1096-8628(19970822)71:3<251::aid-ajmg1>3.0.co;2-x. PMID: 9268091

Recent systematic reviews

Chondrosarcomas of the hands and feet: A case series and systematic review of the literature.
Fayad LM, Ahlawat S, Khan MS, McCarthy E
Eur J Radiol 2015 Oct;84(10):2004-12. Epub 2015 Jul 2 doi: 10.1016/j.ejrad.2015.06.026. PMID: 26189572

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