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Abnormality of the palmar creases

MedGen UID:
526186
Concept ID:
C0221199
Congenital Abnormality
Synonym: Abnormal palmar creases
SNOMED CT: Abnormal palmar creases (205557000)
 
HPO: HP:0010490

Definition

An abnormality of the creases of the skin of palm of hand. [from HPO]

Conditions with this feature

Neurooculocardiogenitourinary syndrome
MedGen UID:
1684841
Concept ID:
C5231443
Disease or Syndrome
Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed (Reis et al., 2019).
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MedGen UID:
1794194
Concept ID:
C5561984
Disease or Syndrome
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).

Professional guidelines

PubMed

Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C
Am J Med Genet A 2015 May;167A(5):1008-17. Epub 2015 Feb 25 doi: 10.1002/ajmg.a.36856. PMID: 25728055
Lumenta DB, Kitzinger HB, Beck H, Frey M
J Hand Surg Am 2010 Aug;35(8):1323-9. Epub 2010 Jul 16 doi: 10.1016/j.jhsa.2010.04.033. PMID: 20638200
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Recent clinical studies

Etiology

Khachnaoui-Zaafrane K, Ouertani I, Zanati A, Kandara H, Maazoul F, Mrad R
Eur J Med Genet 2022 Mar;65(3):104448. Epub 2022 Feb 9 doi: 10.1016/j.ejmg.2022.104448. PMID: 35150935
Kunc V, Štulpa M, Feigl G, Neblett C, Kunc V, Kachlík D
Surg Radiol Anat 2020 Aug;42(8):939-943. Epub 2020 Apr 24 doi: 10.1007/s00276-020-02475-x. PMID: 32333089
Tonkin MA, Chew EM, Ledgard JP, Al-Sultan AA, Smith BJ, Lawson RD
J Hand Surg Am 2015 Mar;40(3):456-61. Epub 2015 Jan 21 doi: 10.1016/j.jhsa.2014.11.017. PMID: 25617216
Tagliafico A, Pugliese F, Bianchi S, Bodner G, Padua L, Rubino M, Martinoli C
AJR Am J Roentgenol 2008 Jul;191(1):107-14. doi: 10.2214/AJR.07.3383. PMID: 18562732
Bidot-López P, Matisoff D, Talner NS, Hsia YE
Am J Med Genet 1978;2(4):341-3. doi: 10.1002/ajmg.1320020404. PMID: 263448

Diagnosis

Fölster-Holst R, Rohrer T, Jung AM
J Dtsch Dermatol Ges 2018 Oct;16(10):1289-1295. doi: 10.1111/ddg.13665. PMID: 30300491
Wijerathne BT, Meier RJ, Agampodi SB
J Med Case Rep 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7. PMID: 27650795Free PMC Article
Torrelo A, Fernandez-Crehuet P, Del Prado E, Martes P, Hernández-Martín A, De Diego V, Carapeto F
Pediatr Dermatol 2010 Mar-Apr;27(2):199-200. doi: 10.1111/j.1525-1470.2010.01098.x. PMID: 20537076
Madhukara J, Kumaran MS
Indian J Dermatol Venereol Leprol 2007 Nov-Dec;73(6):406-8. doi: 10.4103/0378-6323.37059. PMID: 18032860
Jeanty P
J Ultrasound Med 1990 Mar;9(3):131-6. doi: 10.7863/jum.1990.9.3.131. PMID: 2308170

Therapy

Pecimonova M, Radvanszky J, Smolak D, Budis J, Lichvar M, Kristinova D, Rozova I, Turna J, Szemes T
Medicine (Baltimore) 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. PMID: 34087865Free PMC Article
Kunc V, Štulpa M, Feigl G, Neblett C, Kunc V, Kachlík D
Surg Radiol Anat 2020 Aug;42(8):939-943. Epub 2020 Apr 24 doi: 10.1007/s00276-020-02475-x. PMID: 32333089
Lee HS, Jones KL, Lee HK, Chambers CD
Am J Med Genet A 2016 Jan;170A(1):19-23. Epub 2015 Sep 17 doi: 10.1002/ajmg.a.37392. PMID: 26384109Free PMC Article
Torrelo A, Fernandez-Crehuet P, Del Prado E, Martes P, Hernández-Martín A, De Diego V, Carapeto F
Pediatr Dermatol 2010 Mar-Apr;27(2):199-200. doi: 10.1111/j.1525-1470.2010.01098.x. PMID: 20537076
Dar H, Schmidt R, Nitowsky HM
Pediatr Res 1977 Feb;11(2):103-8. doi: 10.1203/00006450-197702000-00004. PMID: 138837

Prognosis

Kunc V, Štulpa M, Feigl G, Neblett C, Kunc V, Kachlík D
Surg Radiol Anat 2020 Aug;42(8):939-943. Epub 2020 Apr 24 doi: 10.1007/s00276-020-02475-x. PMID: 32333089
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
McLean KM, Sacks JM, Kuo YR, Wollstein R, Rubin JP, Andrew Lee WP
Plast Reconstr Surg 2008 Jan;121(1):181-185. doi: 10.1097/01.prs.0000293863.45614.f9. PMID: 18176219
Schaumann BA, Kimura S
Birth Defects Orig Artic Ser 1991;27(2):229-52. PMID: 1786353
Bidot-López P, Matisoff D, Talner NS, Hsia YE
Am J Med Genet 1978;2(4):341-3. doi: 10.1002/ajmg.1320020404. PMID: 263448

Clinical prediction guides

Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T
J Med Genet 2022 Sep;59(9):865-877. Epub 2021 Nov 23 doi: 10.1136/jmedgenet-2020-107623. PMID: 34815299Free PMC Article
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y
Am J Med Genet A 2017 Feb;173(2):510-514. Epub 2016 Oct 19 doi: 10.1002/ajmg.a.38025. PMID: 27759909
Wijerathne BT, Meier RJ, Agampodi SB
J Med Case Rep 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7. PMID: 27650795Free PMC Article
Schaumann BA, Kimura S
Birth Defects Orig Artic Ser 1991;27(2):229-52. PMID: 1786353
Bader PI, Haney SM, Munsick RA, Schubert SR, Hodes ME
Am J Med Genet 1984 Sep;19(1):5-8. doi: 10.1002/ajmg.1320190103. PMID: 6496572

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