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.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


Total: 5

                       


(per page)
PMID (PMCID)
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.
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.
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.
1903499
 FEMALE Child
[Seckel's syndrome].
Corona MF, Lazzini F, Arioni C, Bertani R, de Toni T.
Minerva Pediatr. 1991;43(1-2):45-7.
The patient, admitted to our clinic for short stature, presented some signs of Seckel syndrome: microcephaly, a "bird headed" profile with receding chin and forehead and large beaked nose.