Table 1: Chromosomal defects in humans presenting with simian creases

Phenotype Location/Mutation Inheritance

3-methylglutaconic aciduria AR
3p deletion syndrome 3pter-p25 AD
5p deletion (cri du chat) syndrome IC
Aarskog-Scott syndrome Xp11.22 XLR
Acrofacial dysostosis, catania type AD
Arthrogryposis, renal dysfunction, 15q26.1 AR
cholestasis 1 (ARCS1)
Basan syndrome 4q22.3 AD
Biliary malformation with renal tubular insufficiency AD, XLR
Book syndrome AD
Cerebrooculofacioskeletal syndrome 2 19q13.32 AR
(COFS2)
Chromosome 13q14 deletion syndrome 13q14 AD, IC
Compton-North congenital myopathy 12q12 AR
Congenital bile acid synthesis defect 4 5p13.2 AR
(CBAS4)
Cornelia de Lange syndrome 1 5p13.2 AD
Desbuquois dysplasia 2 16p12.3 AR
Distal 18q deletion syndrome 18q AD
Down syndrome 21q22.3 IC
Dursun syndrome 17q21.31 AR
Faciocardiomelic dysplasia AR
Focal facial dermal dysplasia 3 2q37.3 AR
(FFDD3)
KBG syndrome 16q24.3 AD
Lichtenstein syndrome AR
Lissencephaly 17p13.3 AD
Meckel-Gruber syndrome 17q22 AR
Monosomy 21 IC
Neurodevelopmental disorder with 19p13.2 AD
ataxic gait, absent speech, and
decreased cortical white matter
(NDAGSCW)
Odontotrichoungual-digital-palmar syndrome AD
Osteogenesis imperfecta type XIII 8p21.3 AR
Pallister-Hall syndrome 7p14.1 AD
Peroxisome biogenesis disorder 3B 17q12 AR
(PBD3B)
Pitt Hopkins syndrome 18q21.2 AD
Rudiger syndrome AR
Ruijs-Aalfs syndrome 1q42.2 AR
saethre-chotzen syndrome 7p21.1, 10q26.13 AD
Seckel syndrome 1 3q23 AR
Smith-Lemli-Opitz syndrome 11q13.4 AR
Trisomy 13 IC
Trisomy 18 IC

Williams-Beuren region duplication 7q11.23 AD

syndrome
Wolf-Hirschhorn syndrome 4p16.3 IC

AD = autosomal dominant; AR = autosomal recessive; IC = isolated cases; XLR = X-linked recessive

Adapted from Jeanty (1990). Genetic data obtained from Online Mendelian Inheritance in Man (OMIM), and
Orphanet.
Sumber : Lauren Wahl¹, Graham Dupont¹, R. Shane Tubbs. The Simian Crease: Relationship
to Various Genetic Disorders .Clin Anat. 2019 Nov;32(8):1042-1047.

Palmar crease merupakan ciri tambahan yang dapat mengindikasikan kemungkinan adanya
aberasi kromosom. Simian crease (SC)sering ditemukan pada down syndrome (trisomy 21).
Namun simian crease tidak seharusnya digunakan sebagai pemeriksaan independent untuk
diagnosis down syndrome. SC juga berguna untuk mendiagnosis intrauterine toxin exposure,
fetal alcoholic syndrome, mental retardation, neoplasia dan kelainan lain. Unilateral SC juga
dilaporkan pada kasus mutase kromosom 9 yang menyebabkan Nevoid basal sel karsinoma
sindrom dan sindrom Robinow. Dan juga kadang ditemukan pada tangan sisi yang terdampak
pada pasien sindrom Poland dan kraniosinostosis. SC juga ditemukan pada sindrom klinifelter,
pseudohipoparatiroid dan disgenesis gonad. Sindrom lainya dengan SC adalah Cohen Syndrome,
Turner syndrome, cri du chat syndrome (chromosome 5), Noonan Syndrome (chromosome 12),
Patau Syndrome (chromosome 13), Edward’s Syndrome (chromosome 18) dan Aarskog -Scott
syndrome (X-linked recessive) dan sindrom rubella kongenital.

Sumber : Sunilkumar MN. The enigma of the simian crease: case series with the literature.
Int J Contemp Pediatr. 2014 Nov;1(3):175-177