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.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
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.
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.
12744374
 MALE Infant, Newborn
Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature.
Hopkins TE, Haines SJ.
J Neurosurg. 2003;98(5):1113-5.
To illustrate the rapidity with which a child can develop a severe, symptomatic Chiari I malformation, the authors present the case of a 3-month-old infant with Seckel syndrome (microcephaly, micrognathia, craniosynostosis, and multiple other abnormalities) and posterior sagittal and bilateral lambdoid synostosis.
10889046
 MIXED_SAMPLE Infant, Newborn
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.
Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M.
Am J Hum Genet. 2000;67(2):498-503.
Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, prominent nose, and micrognathia.
9582723
 FEMALE Adult
Esthetic overdenture for a patient with possible Seckel syndrome.
Nihill P, Lin LY, Salzmann LB, Stevens S.
Spec Care Dentist. 1996;16(5):210-3.
This is a case report of a 21-year-old with possible Seckel syndrome (bird-headed dwarfism), micrognathia, microdontia, severe bony undercuts, and periodontal disease who sought treatment at a university dental clinic.
7794560
 MIXED_SAMPLE Infant, Newborn
Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability.
Syrrou M, Georgiou I, Paschopoulos M, Lolis D.
Genet Couns. 1995;6(1):37-41.
In the present communication we report on a family with three children affected by Seckel-syndrome with mental deficiency, microcephaly, micrognathia and severe growth deficiency.
7201238
 MIXED_SAMPLE Child
Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.
Majewski F, Ranke M, Schinzel A.
Am J Med Genet. 1982;12(1):23-35.
In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation.