Seckel syndrome, first defined by seckel in 1960, is characterized by microcephaly, proportionate dwarfism of prenatal onset, and a typical birdheaded profile. Pdf seckel syndrome, first defined by seckel in 1960, is a rare incidence 1. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfilment of the major. Clinical and genetic heterogeneity of seckel syndrome. Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose. Seckel syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a birdheaded like appearance and mental retardation. Clinically manifests as intrauterine and postnatal growth retardation along with microcephaly, receded forehead, micrognathia, hypoplastic ears and mental retardation. Seckel syndrome, its rare condition of autosomal recessive hereditary nature of, characterized by severe growth retardation, intrauterine, proportionate short stature, microcephaly with small and weak chin, nose large and curved, in some cases mental retardation, multiple congenital anomalies in the face skull and skeleton, among other malformations. Sckl1 to ensure longterm funding for the omim project, we have diversified our revenue stream. Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth intrauterine growth retardation resulting in low birth weight. Here we present a case of two and a half months old boy with four days history of loose stools and fever with facial dysmorphism and growth.
Seckel syndrome, an autosomal recessive disorder is the most common of the microcephalic osteodysplastic dwarfisms. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Etiology in 2000, a gene for seckel syndrome was mapped to human chromosome 3q22. Other symptoms and physical features associated with seckel syndrome include an. His pattern of presentation is heterogeneous and therefore some patients are considered seckel like syndrome.
Etiology of the syndrome, which involves multiple malformations, remains unclear, and both sexes are equally affected. Seckel syndrome first defined by seckel in 1959, is a rare incidence 1. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by seckel before the diagnosis is made. Seckel syndrome is a clinical picture which associates four main features. One child had classical seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome, first defined by seckel in 1960, is a rare incidence 1.
Seckel syndrome is a genetic disorder characterized by growth retardation, very small head microcephaly with intellectual disability, and unique facial features such as large eyes, beaklike nose, narrow face, and receding lower jaw. People with experience in seckel syndrome help solve this question. Is the novel sckl3 at 14q23 the predominant seckel locus. Seckel syndrome ss is a hereditary autosomal recessive disease. Seckel syndrome causes, symptoms, diagnosis, treatment. Orphanet is a european reference portal for information on rare diseases and orphan drugs. National organization of rare diseases webbased medical brief description of the clinical featurescharacteristics, medical complications and genetics of this condition. The genes involved in seckel syndrome types 2 and 3 are unknown. Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Nov 09, 2015 seckel syndrome type 1 seckel syndrome type 2 seckel syndrome type 3.
In 1960, seckel 1960 reported 2 personal cases and cases from the literature of a clinical condition characterized by severe intrauterine and postnatal proportionate dwarfism, severe microcephaly, birdheaded profile with receding forehead and chin, large and beaked nose, severe mental retardation, and other anomalies majewski and goecke 1982. The syndrome has autosomal recessive inheritance with equal male and female sex occurrence. Seckel syndrome sckl is a rare genetic disorder characterized by growth delays prior to birth intrauterine growth retardation, and continuing growth delays after birth postnatal, resulting in short stature proportional dwarfism. Is a 6 gene panel that includes assessment of noncoding variants. Seckel syndrome, first defined by seckel in 1960, is a rare incidence. This means that the chance of both the copies of the gene to get affected is rare.
Is seckel syndrome transmitted from person to person. Apr 21, 20 peters plus syndrome and the kaylee sophie castillo foundation coconut creek florida duration. Seckel syndrome genetic and rare diseases information. Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
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 birdlike, and mild to severe intellectual disability. Growth delays continue after birth postnatal, resulting in short stature dwarfism. The clinical pattern is considered heterogeneous, some. It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly. Seckel syndrome, or microcephalic primordial dwarfism also known as birdheaded dwarfism, harpers syndrome, virchowseckel dwarfism and birdheaded dwarf of seckel is an extremely rare congenital nanosomic disorder. Seckel syndrome the seckel syndrome is characterized by intrauterine growth retardation, micrognathia, dwarfism, and birdheaded dwarfism. Seckel syndrome nord national organization for rare. About less than 25% of the patients also have blood abnormalities. Here, we describe the novel homozygous splicesite mutations c. Seckel syndrome, first described in 1960 is characterized by proportionate dwarfism of prenatal onset, microcephaly, and typical birdheaded profile concurrent occurrence of beaked nose, receding forehead, prominent eyes, and micrognathia.
Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth. Other features of sckl include microcephaly small head with intellectual disability, unique facial features. Photographs and fetal ultrasound images of individuals with seckel syndrome. A locus sckl1 has been identified at 3q and another sckl2 at 18p, both in single kindreds afflicted with the syndrome. The genes on this panel are included in the 3m syndrome primordial dwarfism panel, the comprehensive short stature syndrome panel and the comprehensive growth disorders skeletal dysplasias and disorders panel. Seckel syndrome ss is an extremely rare disease that is a form of primordial autosomal recessive dwarfism. Seckel syndrome type 1 seckel syndrome type 2 seckel syndrome type 3. Seckel syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations. Seckel syndrome about little people uk little people uk was cofounded in january 2012 by actor warwick davis, his wife samantha and a group of individuals with the same goal. Repercussions of speech therapy in seckel syndrome.
It involves deoxyribonucleic acid dna damage repair genes which cause chromosomal instability. The specific gene involved in seckel syndrome 1 is known as the ataxiatelangiectasia and rad3related protein atr gene. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Seckel syndrome is a rare entity characterized by intrauterine growth retardation, micrognathia, dwarfism and facies of a bird. Xray features include retarded bone age, frequent hip dysplasia and dislocation of the head of the radius. Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial dwarfism and characterized by the association of 1 severe pre. Clinical presentation it is clinically characterized by many features inclu. Five children in whom a diagnosis of seckel syndrome had previously been made were reexamined in the genetic unit. Seckel syndrome nord national organization for rare disorders. A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head microcephaly, receding forehead, large eyes, low ears, prominent beaklike protrusion of the nose, and smallish chin. Summary the bird headed dwarfism or seckel syndrome. Seckel syndrome is a rare disease, with autosomal recessive mode of inheritance.
Pdf seckel syndrome ss is a rare, autosomal recessive syndrome. Seckel syndrome definition of seckel syndrome by medical. Seckel syndrome is a rare genetic disorder characterized by marked intrauterine growth retardation primordial dwarfism and post natal dwarfism, microcephaly, mental retardation and typical facial features with a birdheaded appearance. Seckel syndrome, an autosomal recessive disorder is the most common of the microcephalic. We report a case of a child with these characteristics and studies for detection. Seckel syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. Genetic testing for seckel syndrome blueprint genetics. Seckel syndrome and cannot be used as a tool for the diagnosis of seckel syndrome. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. This disorder affects both males and females equally. Monica cartelle gestal phd cuarto semestre c 07noviembre 20 torres thalia nunez 2. Peters plus syndrome and the kaylee sophie castillo foundation coconut creek florida duration.
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