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Tapered toe

MedGen UID:
866813
Concept ID:
C4021167
Anatomical Abnormality
Synonym: Tapering toes
 
HPO: HP:0011309

Definition

The gradual reduction in girth of the toe from proximal to distal. [from HPO]

Term Hierarchy

Conditions with this feature

Carnitine palmitoyl transferase II deficiency, neonatal form
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Yunis-Varon syndrome
MedGen UID:
341818
Concept ID:
C1857663
Disease or Syndrome
Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Congenital myopathy 22B, severe fetal
MedGen UID:
1841137
Concept ID:
C5830501
Disease or Syndrome
Severe fetal congenital myopathy-22B (CMYO22B) is an autosomal recessive muscle disorder characterized by in utero onset of severe muscle weakness manifest as fetal akinesia. The pregnancies are often complicated by polyhydramnios, and affected individuals develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Those who are born have respiratory failure resulting in death. Dysmorphic facial features may be present. The features in these patients overlap with fetal akinesia deformation sequence (FADS; see 208150) and lethal congenital contractures syndrome (LCCS; see 253310) (Zaharieva et al., 2016). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).

Recent clinical studies

Etiology

Scherer HU, van der Woude D, Toes REM
Nat Rev Rheumatol 2022 Jul;18(7):371-383. Epub 2022 May 23 doi: 10.1038/s41584-022-00786-4. PMID: 35606567
de Moel EC, Rech J, Mahler M, Roth J, Vogl T, Schouffoer A, Goekoop RJ, Huizinga TWJ, Allaart CF, Toes REM, Schett G, van der Woude D
Arthritis Res Ther 2019 Dec 5;21(1):268. doi: 10.1186/s13075-019-2064-y. PMID: 31805992Free PMC Article
Mericli AF, Black JS, Morgan RF
J Hand Surg Am 2015 Sep;40(9):1755-63. Epub 2015 Jul 9 doi: 10.1016/j.jhsa.2015.05.023. PMID: 26163923
van Dongen H, van Aken J, Lard LR, Visser K, Ronday HK, Hulsmans HM, Speyer I, Westedt ML, Peeters AJ, Allaart CF, Toes RE, Breedveld FC, Huizinga TW
Arthritis Rheum 2007 May;56(5):1424-32. doi: 10.1002/art.22525. PMID: 17469099
Schorry EK, Oppenheimer SG, Saal HM
Am J Med Genet A 2005 Mar 1;133A(2):202-6. doi: 10.1002/ajmg.a.30494. PMID: 15669094

Diagnosis

Soffer G, Cohen B, Toh J, Edelman D, Garg K, Jariwala S
Vasc Endovascular Surg 2018 Jan;52(1):59-60. Epub 2017 Oct 30 doi: 10.1177/1538574417736420. PMID: 29084492
van Dongen H, van Aken J, Lard LR, Visser K, Ronday HK, Hulsmans HM, Speyer I, Westedt ML, Peeters AJ, Allaart CF, Toes RE, Breedveld FC, Huizinga TW
Arthritis Rheum 2007 May;56(5):1424-32. doi: 10.1002/art.22525. PMID: 17469099
Golden CM, Ryan LM, Holmes LB
Birth Defects Res A Clin Mol Teratol 2003 Aug;67(8):557-62. doi: 10.1002/bdra.10078. PMID: 14632304
Inui S, Itami S, Iwai C, Yoshikawa K
J Dermatol 2001 Mar;28(3):161-4. doi: 10.1111/j.1346-8138.2001.tb00112.x. PMID: 11349469
Bal M, Schrander-Stumpel CT, Meers LE, Theunissen PM, Hamers AJ, Wennekes MJ, Engelen JJ
Genet Couns 2000;11(3):221-7. PMID: 11043430

Therapy

Chen Y, Li Y, Zhan T
Medicine (Baltimore) 2022 Sep 30;101(39):e30814. doi: 10.1097/MD.0000000000030814. PMID: 36181106Free PMC Article
Kraaij T, Kamerling SWA, de Rooij ENM, van Daele PLA, Bredewold OW, Bakker JA, Bajema IM, Scherer HU, Toes REM, Huizinga TJW, Rabelink TJ, van Kooten C, Teng YKO
J Autoimmun 2018 Jul;91:45-54. Epub 2018 Apr 7 doi: 10.1016/j.jaut.2018.03.003. PMID: 29636274
Reich A, Maj J, Cisło M, Szepietowski JC
Clin Exp Dermatol 2009 Jul;34(5):e81-4. Epub 2009 May 5 doi: 10.1111/j.1365-2230.2009.03209.x. PMID: 19438552
van Dongen H, van Aken J, Lard LR, Visser K, Ronday HK, Hulsmans HM, Speyer I, Westedt ML, Peeters AJ, Allaart CF, Toes RE, Breedveld FC, Huizinga TW
Arthritis Rheum 2007 May;56(5):1424-32. doi: 10.1002/art.22525. PMID: 17469099
Schorry EK, Oppenheimer SG, Saal HM
Am J Med Genet A 2005 Mar 1;133A(2):202-6. doi: 10.1002/ajmg.a.30494. PMID: 15669094

Prognosis

Scherer HU, van der Woude D, Toes REM
Nat Rev Rheumatol 2022 Jul;18(7):371-383. Epub 2022 May 23 doi: 10.1038/s41584-022-00786-4. PMID: 35606567
Soffer G, Cohen B, Toh J, Edelman D, Garg K, Jariwala S
Vasc Endovascular Surg 2018 Jan;52(1):59-60. Epub 2017 Oct 30 doi: 10.1177/1538574417736420. PMID: 29084492
Jo D, Pompa T, Khalil A, Kong F, Wetz R, Goldstein M
Clin Rheumatol 2015 Oct;34(10):1813-6. Epub 2014 May 9 doi: 10.1007/s10067-014-2657-4. PMID: 24810700
van Dongen H, van Aken J, Lard LR, Visser K, Ronday HK, Hulsmans HM, Speyer I, Westedt ML, Peeters AJ, Allaart CF, Toes RE, Breedveld FC, Huizinga TW
Arthritis Rheum 2007 May;56(5):1424-32. doi: 10.1002/art.22525. PMID: 17469099
Bal M, Schrander-Stumpel CT, Meers LE, Theunissen PM, Hamers AJ, Wennekes MJ, Engelen JJ
Genet Couns 2000;11(3):221-7. PMID: 11043430

Clinical prediction guides

Scherer HU, van der Woude D, Toes REM
Nat Rev Rheumatol 2022 Jul;18(7):371-383. Epub 2022 May 23 doi: 10.1038/s41584-022-00786-4. PMID: 35606567
de Moel EC, Derksen VFAM, Trouw LA, Bang H, Collée G, Lard LR, Ramiro S, Huizinga TWJ, Allaart CF, Toes REM, van der Woude D
Arthritis Res Ther 2019 Jan 18;21(1):28. doi: 10.1186/s13075-019-1815-0. PMID: 30658699Free PMC Article
Soffer G, Cohen B, Toh J, Edelman D, Garg K, Jariwala S
Vasc Endovascular Surg 2018 Jan;52(1):59-60. Epub 2017 Oct 30 doi: 10.1177/1538574417736420. PMID: 29084492
van Dongen H, van Aken J, Lard LR, Visser K, Ronday HK, Hulsmans HM, Speyer I, Westedt ML, Peeters AJ, Allaart CF, Toes RE, Breedveld FC, Huizinga TW
Arthritis Rheum 2007 May;56(5):1424-32. doi: 10.1002/art.22525. PMID: 17469099
Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C
Am J Med Genet 1996 May 17;63(2):335-9. doi: 10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S. PMID: 8725781

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