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Absent palmar crease

MedGen UID:
866906
Concept ID:
C4021262
Finding
Synonyms: Absence of the palmar creases; Absent palm lines; Aplasia of the palmar creases
 
HPO: HP:0010489

Definition

The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). [from HPO]

Term Hierarchy

Conditions with this feature

Bartsocas-Papas syndrome 1
MedGen UID:
337894
Concept ID:
C1849718
Disease or Syndrome
Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).
Chromosome 8q21.11 deletion syndrome
MedGen UID:
481861
Concept ID:
C3280231
Disease or Syndrome
The chromosome 8q21.11 deletion syndrome is characterized by impaired intellectual development and common facial dysmorphic features (summary by Palomares et al., 2011).

Recent clinical studies

Etiology

Pripotnev S, Bruce J, Novak CB, Kennedy CR, Fox IK
J Hand Surg Am 2023 Jul;48(7):700-710. Epub 2023 May 16 doi: 10.1016/j.jhsa.2023.04.004. PMID: 37191601
Nagappa M, Atchayaram N, Narayanappa G
Neurol India 2013 Sep-Oct;61(5):481-7. doi: 10.4103/0028-3886.121913. PMID: 24262449
Eswaraiah G, Bali RS
Int J Lepr Other Mycobact Dis 1978 Jan-Mar;46(1):56-60. PMID: 565756

Diagnosis

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
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
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
Nagappa M, Atchayaram N, Narayanappa G
Neurol India 2013 Sep-Oct;61(5):481-7. doi: 10.4103/0028-3886.121913. PMID: 24262449
Young RS, Reed T, Hodes ME, Palmer CG
Hum Genet 1982;62(1):31-9. doi: 10.1007/BF00295601. PMID: 6759367

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

Prognosis

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

Clinical prediction guides

Pripotnev S, Bruce J, Novak CB, Kennedy CR, Fox IK
J Hand Surg Am 2023 Jul;48(7):700-710. Epub 2023 May 16 doi: 10.1016/j.jhsa.2023.04.004. PMID: 37191601
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
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
Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B
Am J Med Genet A 2009 Jun;149A(6):1200-4. doi: 10.1002/ajmg.a.32847. PMID: 19449418

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