The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. [thejns.org]

Low birth weight may be present. Other clinical features include retrognathia, a narrow face, and dysplastic ears. Mental retardation may also be present. It is inherited as an autosomal recessive transmission. [accessanesthesiology.mhmedical.com]

Standard Therapies Treatment Medical treatment for Seckel syndrome is based on the specific problems that are present in the affected child. [rarediseases.org]

The objective is to present two unrelated patients with a 10-year-old male and female patients with Meier Gorlin syndrome type 1, the latter being the second report in the Mexican population. [go.gale.com]

• Short Stature

  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). [ncbi.nlm.nih.gov]

  Key words: Meier Gorlin Syndrome, "ear-knee-short stature" syndrome, ORC1 gene, 1p32, MGS Get Full Access Gale offers a variety of resources for education, lifelong learning, and academic research. [go.gale.com]

  It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. [cambridge.org]

  Osteodysplastic Bird-Headed Dwarfism Type III (Osteodysplastic Primordial Dwarfism Type III): Characterized by short stature, microcephaly, and a “beak-like” nose. Retrognathia, a narrow face, receding forehead, and alopecia have been reported. [accessanesthesiology.mhmedical.com]

• Disability

  The onset is prenatal and continues postnatally causing severe microcephaly, a bird-like face, dwarfism, and severe intellectual disability.[1][2] Facial features of Seckel Syndrome Prevalence[edit | edit source] Seckel Syndrome is a rare genetic disorder [physio-pedia.com]

  It is clinically characterized by many features including: intrauterine growth restriction postnatal growth delay microcephaly 7 intellectual disability facial dysmorphisms micrognathia recessed forehead large beaked nose It is considered a type of primordial [radiopaedia.org]

  Intellectual disability MedGen UID: 811461 •Concept ID: C3714756 • Mental or Behavioral Dysfunction Subnormal intellectual functioning which originates during the developmental period. [ncbi.nlm.nih.gov]

  Some features of Seckel syndrome are a small head (microcephaly) and intellectual disability. Possible facial features are a sloping forehead and “beak-like” nose. [rarediseases.org]

  The Seckel syndrome is characterized by more severe intellectual disability as well as more often the presence of characteristic facial features. To date, 17 different genes associated with autosomal recessive MCPH are identified. [link.springer.com]

• Anemia

  Therapeutic and Medical management mostly focuses on treating associated hematological abnormalities (anemia, pancytopenia, acute myeloid leukaemia) and providing appropriate social support and counselling services for the individual and the family. [physio-pedia.com]

  A low level of red blood cells is known as anemia. Causes Seckel syndrome is rare genetic disorder that is inherited in an autosomal recessive pattern. [rarediseases.org]

• Proportionate Short Stature

  Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011). [ncbi.nlm.nih.gov]

• Small Head

  Seckel syndrome may be suspected if a fetus has a small head (microcephaly), slow growth or features of the head and face (craniofacial) associated with Seckel syndrome. [rarediseases.org]

  Seckel syndrome is suspected if a fetus has a small head, slow growth, and changes to the head and face associated with the condition. [physio-pedia.com]

• Ataxia

  Seckel syndrome 1: ataxia-telangiectasia and Rad3-related protein (ATR) gene Seckel syndrome 2: RB binding protein 8 (RBBP8) gene Seckel syndrome 4: centromere protein J (CENPJ) gene Seckel syndrome 5: centrosomal protein 152 (CEP152) gene Seckel syndrome [physio-pedia.com]

  “A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.” (Nature Genetics) 33 (4). 12. Regen, A, LP Nelson, and SB Woo. 2010. [escipub.com]

  The types and gene names are: · Seckel syndrome 1: ataxia-telangiectasia and Rad3-related protein (ATR) gene · Seckel syndrome 2: RB binding protein 8 (RBBP8) gene · Seckel syndrome 4: centromere protein J (CENPJ) gene · Seckel syndrome 5: centrosomal [rarediseases.org]

  Li S, Ting NS, Zheng L, Chen PL, Ziv Y, et al. (2000) Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response. Nature 406: 210–215. View Article Google Scholar 20. [journals.plos.org]

The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. [thejns.org]

Standard Therapies Treatment Medical treatment for Seckel syndrome is based on the specific problems that are present in the affected child. [rarediseases.org]

After etoposide treatment, both the total number of cells and the number of viable cells dropped in all cases. [journals.plos.org]

Alcohol abuse in pregnant women: effects on the fetus and newborn, mode of action and maternal treatment. Int J Environ Res Public Health. 2010;7(2):364–79. Article PubMed PubMed Central Google Scholar 4. Lenke RR, Levy HL. [link.springer.com]

PMID: 8182723Free PMC Article Prognosis Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. [ncbi.nlm.nih.gov]

Discussion and conclusion: Recognizing and giving multidisciplinary follow-up will help to know the etiology of the disease, as well as its evolution, management and genetic counseling. [go.gale.com]

The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]

Etiology[edit | edit source] Seckel Syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. Listed below are multiple variations of Seckel Syndrome caused by gene mutations on multiple chromosomes. [physio-pedia.com]

Zinchenko Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moskvorechie St., 1, Moscow, Russian Federation, 115478 Andrey V. Marakhonov Authors Andrey V. [link.springer.com]

Although the lack of biological samples from the Jawad family prevented us from analyzing the predicted appearance of the shorter species of CtIP mRNA and protein in this case, we hypothesize that in each disease, the causative mutation leads to a transcript [journals.plos.org]