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Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.

Total: 27

(per page)

PMID (PMCID)
29284336	FEMALE	Adult
	Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature.
	Akkurt MO, Pakay K, Akkurt I, Temur M, Korkmazer E. J Matern Fetal Neonatal Med. 2019;32(11):1905-1908.
	The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restriction, microcephaly and a bird-like fetal head appearance.
29284336	FEMALE	Adult
	Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature.
	Akkurt MO, Pakay K, Akkurt I, Temur M, Korkmazer E. J Matern Fetal Neonatal Med. 2019;32(11):1905-1908.
	Seckel syndrome should be kept in mind in the differential diagnosis of severe microcephaly, accompanied by fetal growth restriction.
29504900 (5836840)	MIXED_SAMPLE	Middle Aged
	Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
	Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA. BMC Med Genomics. 2018;11(Suppl 1):8.
	Our case represents an additional support for the clinical continuum between Seckel Syndrome and primary microcephaly.
29504900 (5836840)	MIXED_SAMPLE	Middle Aged
	Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
	Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA. BMC Med Genomics. 2018;11(Suppl 1):8.
	Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome.
29504900 (5836840)	MIXED_SAMPLE	Middle Aged
	Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
	Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA. BMC Med Genomics. 2018;11(Suppl 1):8.
	Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
26266004	OTHER
	Antenatal diagnosis of Seckel Syndrome: a rare case report.
	Vascone C, Di Meglio F, Di Meglio L, Turco LC, Vitale SG, Cignini P, Marilli I, Rapisarda AM, Valenti G, Cianci S. J Prenat Med. 2014;8(3-4):70-2.
	Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations.
24739918	MALE	Child
	Seckel syndrome: a rare case report.
	Sisodia R, Raj RK, Goel V. J Indian Soc Pedod Prev Dent. 2014;32(2):160-3.
	Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed).
24483323	MIXED_SAMPLE	Child
	Successful outcome of allogeneic stem cell transplantation in Seckel syndrome.
	Darrigo LG Jr, Rodrigues MC, Pieroni F, Stracieri AB, Moraes DA, Grecco CE, Dias JB, Sobral AC, Simoes BP. Pediatr Transplant. 2014;18(3):E93-5.
	Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders.
23111928	MIXED_SAMPLE	Child
	Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
	Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Picard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P. Hum Mutat. 2013;34(2):374-84.
	Seckel syndrome, a rare genetic disorder characterized by a microcephaly and a markedly reduced body size, has been associated with defective ATR-dependent DNA damage signaling.
21669506	MIXED_SAMPLE
	Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms.
	Fitzgerald B, O'Driscoll M, Chong K, Keating S, Shannon P. Brain Dev. 2012;34(3):238-43.
	Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation.
22353298	FEMALE	Infant, Newborn
	Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis.
	Sarici D, Akin MA, Kara A, Doganay S, Kurtoglu S. Pediatr Neurol. 2012;46(3):189-91.
	Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and micrognathia.
21548129 (3109510)	OTHER	Infant
	Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
	Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM Jr. Am J Med Genet A. 2011;155A(6):1336-51.
	The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins.
21070714	FEMALE
	Dental manifestations associated with Seckel syndrome type II: a case report.
	Regen A, Nelson LP, Woo SB. Pediatr Dent. 2010;32(5):445-50.
	Seckel syndrome is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, mental retardation, and characteristic facial features such as microcephaly, micrognathia, and a bird-head appearance.
20393849	FEMALE
	Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?
	Rahme R, Crevier L, Dubois J, Mercier C. Childs Nerv Syst. 2010;26(7):983-6.
	Seckel syndrome (SS) and other microcephalic primordial dwarfisms (MPDs) are a group of autosomal recessive disorders characterized by prenatal and postnatal growth retardation, microcephaly, and distinct facial dysmorphic features.
30625818	OTHER
	Anesthetic experience of a pediatric patient with Seckel syndrome associated with pneumonia : A case report.
	Kim TH, Kim YU, Song JG, Hwang JH. Korean J Anesthesiol. 2009;56(6):717-719.
	The patients with Seckel syndrome are characterized by growth retardation, microcephaly with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose.
18984961	MIXED_SAMPLE	Infant, Newborn
	Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.
	Takikawa KM, Kikuchi A, Yokoyama A, Ono K, Iwasawa Y, Sunagawa S, Takagi K, Kawame H, Nakamura T. Fetal Diagn Ther. 2008;24(4):405-8.
	Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.
17300651	FEMALE
	Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome.
	Brackeen A, Babb-Tarbox M, Smith J. Pediatr Dermatol. 2007;24(1):53-6.
	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.
16015581	OTHER	Child
	Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
	de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM. Am J Med Genet A. 2005;137(1):81-7.
	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation.
15127771	MALE
	Seckel syndrome associated with atrioventricular canal defect: a case report.
	Ucar B, Kilic Z, Dinleyici EC, Yakut A, Dogruel N. Clin Dysmorphol. 2004;13(1):53-5.
	Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant microcephaly and a convex nose.
14598338	MIXED_SAMPLE	Infant
	Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.
	Bobabilla-Morales L, Corona-Rivera A, Corona-Rivera JR, Buenrostro C, Garcia-Cobian TA, Corona-Rivera E, Cantu-Garza JM, Garcia-Cruz D. Am J Med Genet A. 2003;123A(2):148-52.
	Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, microcephaly, typical facial appearance with beak-like protrusion, and severe mental retardation.