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Abnormal dermatoglyphics

MedGen UID:
609464
•Concept ID:
C0432333
•
Congenital Abnormality
Synonym: dermatoglyphic abnormality
SNOMED CT: Abnormal dermatoglyphic pattern (83145004); Dermatoglyphic anomalies (83145004); Dermatoglyphic abnormality (83145004)
 
HPO: HP:0007477

Definition

An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal dermatoglyphics

Conditions with this feature

Dermal ridges, nelson syndrome
MedGen UID:
377606
•Concept ID:
C1852161
•
Disease or Syndrome
See: Condition Record
Tel Hashomer camptodactyly syndrome
MedGen UID:
347860
•Concept ID:
C1859356
•
Disease or Syndrome
A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated.
See: Condition Record
Tricho-oculo-dermo-vertebral syndrome
MedGen UID:
355714
•Concept ID:
C1866427
•
Disease or Syndrome
See: Condition Record
Cardiofacioneurodevelopmental syndrome
MedGen UID:
1721861
•Concept ID:
C5436852
•
Disease or Syndrome
Cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by microcephaly, midline facial defects, developmental delay, and cerebellar hypoplasia. Variable cardiac defects may be present, including atrioventricular canal and ventricular septal defects. Heterotaxy has also been reported (Harel et al., 2020).
See: Condition Record
Cardiofacioneurodevelopmental syndrome
Dermal ridges, nelson syndrome
Tel Hashomer camptodactyly syndrome
Tricho-oculo-dermo-vertebral syndrome

Professional guidelines

PubMed

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.
Lim C, Jung ST, Shin CH, Park MS, Yoo WJ, Chung CY, Choi IH, Ko JM, Cho TJ
Clin Orthop Surg 2019 Dec;11(4):474-481. Epub 2019 Nov 12 doi: 10.4055/cios.2019.11.4.474. PMID: 31788172Free PMC Article
Genetic patient evaluation.
Herrmann J, Opitz JM
Postgrad Med 1977 Nov;62(5):191-4, 199-203. doi: 10.1080/00325481.1977.11714685. PMID: 917945
Genetic counseling.
Fraser FC
Am J Hum Genet 1974 Sep;26(5):636-59. PMID: 4609197Free PMC Article

Recent clinical studies

Etiology

Epidemiological comparison of schizophrenia and bipolar disorder.
Torrey EF
Schizophr Res 1999 Sep 29;39(2):101-6; discussion 159-60. doi: 10.1016/s0920-9964(99)00107-3. PMID: 10507519
Down syndrome phenotypes: the consequences of chromosomal imbalance.
Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C
Proc Natl Acad Sci U S A 1994 May 24;91(11):4997-5001. doi: 10.1073/pnas.91.11.4997. PMID: 8197171Free PMC Article
Preliminary evidence for an association between minor physical anomalies and second trimester neurodevelopment in schizophrenia.
Green MF, Bracha HS, Satz P, Christenson CD
Psychiatry Res 1994 Aug;53(2):119-27. doi: 10.1016/0165-1781(94)90103-1. PMID: 7824672
A distinct type of hidrotic ectodermal dysplasia.
Halal F, Setton N, Wang NS
Am J Med Genet 1991 Mar 15;38(4):552-6. doi: 10.1002/ajmg.1320380411. PMID: 2063897
Screening for autosomal aberrations.
Higurashi M, Segawa M, Matsui I, Ihnuma K, Nakagome Y
Acta Paediatr Scand 1977 Jul;66(4):501-4. doi: 10.1111/j.1651-2227.1977.tb07934.x. PMID: 899767

Diagnosis

The importance of Merkel cells in the development of human fingerprints.
Polakovicova S, Polak S, Jurikova M
Bratisl Lek Listy 2023;124(3):201-204. doi: 10.4149/BLL_2023_032. PMID: 36598311
Cri du Chat syndrome.
Cerruti Mainardi P
Orphanet J Rare Dis 2006 Sep 5;1:33. doi: 10.1186/1750-1172-1-33. PMID: 16953888Free PMC Article
3-M syndrome in two sisters.
Marik I, Marikova O, Kuklik M, Zemkova D, Kozlowski K
J Paediatr Child Health 2002 Aug;38(4):419-22. doi: 10.1046/j.1440-1754.2002.00026.x. PMID: 12174011
The clinical stigmata of aberrant neurodevelopment in schizophrenia.
Buckley PF
J Nerv Ment Dis 1998 Feb;186(2):79-86. doi: 10.1097/00005053-199802000-00003. PMID: 9484307
Further delineation of the dup(3q) syndrome.
Wilson GN, Dasouki M, Barr M Jr
Am J Med Genet 1985 Sep;22(1):117-23. doi: 10.1002/ajmg.1320220113. PMID: 4050847

Therapy

Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero.
Stoll C, Audeoud F, Gaugler C, Bernardin A, Messer J
Genet Couns 2003;14(3):289-98. PMID: 14577673

Prognosis

Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.
Veenma D, Beurskens N, Douben H, Eussen B, Noomen P, Govaerts L, Grijseels E, Lequin M, de Krijger R, Tibboel D, de Klein A, Van Opstal D
PLoS One 2010 Dec 21;5(12):e15348. doi: 10.1371/journal.pone.0015348. PMID: 21203572Free PMC Article
Cri du Chat syndrome.
Cerruti Mainardi P
Orphanet J Rare Dis 2006 Sep 5;1:33. doi: 10.1186/1750-1172-1-33. PMID: 16953888Free PMC Article
Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero.
Stoll C, Audeoud F, Gaugler C, Bernardin A, Messer J
Genet Couns 2003;14(3):289-98. PMID: 14577673
Fatal neonatal nemaline myopathy with multiple congenital anomalies.
McComb RD, Markesbery WR, O'Connor WN
J Pediatr 1979 Jan;94(1):47-51. doi: 10.1016/s0022-3476(79)80348-0. PMID: 758421
Complete trisomy 22.
Shokeir MH
Clin Genet 1978 Sep;14(3):139-46. doi: 10.1111/j.1399-0004.1978.tb02119.x. PMID: 568044

Clinical prediction guides

The importance of Merkel cells in the development of human fingerprints.
Polakovicova S, Polak S, Jurikova M
Bratisl Lek Listy 2023;124(3):201-204. doi: 10.4149/BLL_2023_032. PMID: 36598311
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC
Eur J Med Genet 2007 Jan-Feb;50(1):73-8. Epub 2006 Oct 11 doi: 10.1016/j.ejmg.2006.09.004. PMID: 17194633
The clinical stigmata of aberrant neurodevelopment in schizophrenia.
Buckley PF
J Nerv Ment Dis 1998 Feb;186(2):79-86. doi: 10.1097/00005053-199802000-00003. PMID: 9484307
A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.
Qazi QH, Markouizos D, Rao C, Sheikh T, Beller E, Kula R
J Med Genet 1994 May;31(5):405-9. doi: 10.1136/jmg.31.5.405. PMID: 8064821Free PMC Article
Preliminary evidence for an association between minor physical anomalies and second trimester neurodevelopment in schizophrenia.
Green MF, Bracha HS, Satz P, Christenson CD
Psychiatry Res 1994 Aug;53(2):119-27. doi: 10.1016/0165-1781(94)90103-1. PMID: 7824672

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