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1,825 Possible Causes for (2p21del), 2p21, and, are, deletion, distinct, dysfunction, dysmorphic, features,, however,, mental, mitochondrial, neonatal, retardation,, seizures,, severe, Syndrome, to, unique

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  • Mowat-Wilson Syndrome

    However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed.[ncbi.nlm.nih.gov] Syndrom - van Bon, 2008 2p24.3 Feingold Syndrom - W 2p21 Hypotonia- Cystinurea- Syndrom - W 2p21 Holoprosencephaly 2 Syndrom - W 2p15-16.1 Microdeletion 2p15-16.1 Syndrom[humangenetik.uniklinikum-jena.de] Other aspects of embryonic and neonatal development, including neuronal, are unaffected.[ncbi.nlm.nih.gov] […] disease" with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct[ncbi.nlm.nih.gov] […] may precede neurologic dysfunction by several years.[icd10data.com] Individuals with this condition have characteristic facial features, including microcephaly, hypertelorism, medially flared and broad eyebrows, prominent columella, pointed[ncbi.nlm.nih.gov] To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS.[ncbi.nlm.nih.gov] Abstract We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung[ncbi.nlm.nih.gov] Abstract Mowat-Wilson syndrome is a multiple congenital anomaly and intellectual disability syndrome characterized by a unique face and various other structural and functional[ncbi.nlm.nih.gov] Fever-induced seizures can be presenting signs of MWS.[ncbi.nlm.nih.gov]

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  • Wolf Hirschhorn Syndrome

    However, his facial phenotype differs from the typical WHS gestalt. Copyright 2010 Elsevier Masson SAS. All rights reserved.[ncbi.nlm.nih.gov] The author declares no conflict of interest. 2014 by The National Association of Neonatal Nurses Related Articles[journals.lww.com] On the other hand, more distinctive phenotypic traits correlate with the segmental aneuploidy.[ncbi.nlm.nih.gov] Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia with decreased muscle bulk and[ncbi.nlm.nih.gov] Synonyms: chromosome 4p deletion syndrome, 4p- syndrome, monosomy 4p syndrome Wolf-Hirschhorn syndrome (WHS) is characterised by learning difficulties, epilepsy, growth delay[patient.info] Growing evidence derived from several model organisms suggests that reduced LETM1 expression is associated with some element of mitochondrial dysfunction.[ncbi.nlm.nih.gov] Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants.[ncbi.nlm.nih.gov] The form and the severity of clinical manifestations vary according to the size and location of the deletion.[ncbi.nlm.nih.gov] Abstract We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome ([ncbi.nlm.nih.gov] The mean age of the last seizure for those who were seizure free for 3 years was 11.3 years (range 2-28 years); in the majority of patients, seizures ceased within childhood[ncbi.nlm.nih.gov]

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  • Sanjad-Sakati Syndrome

    However, the patient died 18 months later as a result of pulmonary complications.[ncbi.nlm.nih.gov] We describe the first report of morbid pathological fractures affecting a neonate with SSS.[ncbi.nlm.nih.gov] All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families.[ncbi.nlm.nih.gov] Abstract We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation.[ncbi.nlm.nih.gov] ORPHA:2323 Synonym(s): HRD syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability-seizures syndrome[orpha.net] […] the pathophysiology of diabetes mellitus 273 The clinical management of diabetes mellitus 305 Hypoglycaemia 333 Hypothalamic pituitary and adrenal disorders 349 Thyroid dysfunction[books.google.com] It is characterized by congenital hypoparathyroidism, severe growth failure and dysmorphic features.[ncbi.nlm.nih.gov] All affected patients of Arab origin are homozygous for a 12-bp (155-166del) deletion in exon 3 of this gene.[ncbi.nlm.nih.gov] All had severe intrauterine and postnatal growth retardation. Four patients have died.[ncbi.nlm.nih.gov] We report unique ophthalmic findings in a two-year-old child with molecularly confirmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old[squ.pure.elsevier.com]

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  • Kabuki Syndrome

    However, very little information is available on developmental outcome.[ncbi.nlm.nih.gov] Abstract A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome.[ncbi.nlm.nih.gov] Kabuki syndrome (KS) comprises multiple congenital anomalies and distinctive facial appearance.[ncbi.nlm.nih.gov] Unknown by most primary care physicians and clinicians in the mental health fields, children with KS present with unique facial characteristics, mental retardation, health[ncbi.nlm.nih.gov] Kabuki make-up syndrome Kabuki makeup syndrome KMS Niikawa-Kuroki syndrome Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears[ghr.nlm.nih.gov] Abstract Kabuki syndrome is a rare congenital malformation syndrome characterized by mental retardation, skeletal deformities, auditory dysfunction, cardiac defects, and distinctive[ncbi.nlm.nih.gov] Abstract This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described[ncbi.nlm.nih.gov] , one with a mosaic whole-gene deletion, one with a multi-exon deletion and one with an intragenic multi-exon duplication.[ncbi.nlm.nih.gov] OBSERVATIONS: We report the case of an adolescent with an uncommon combination of manifestations, including hypogammaglobulinemia and severe chronic thrombopenia associated[ncbi.nlm.nih.gov] Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur.[ncbi.nlm.nih.gov]

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  • Multiple Congenital Anomalies

    The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder. Copyright 2001 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] We present a case report of the presence of multiple ectopic pancreatic tissues in the gut causing hemorrhage and perforation in a preterm, extremely low birth weight neonate[ncbi.nlm.nih.gov] […] disease" with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct[ncbi.nlm.nih.gov] Thus, these findings implicate ST5 in the aetiology of mental retardation, seizures and multiple congenital anomalies.[ncbi.nlm.nih.gov] Read More on This Topic childhood disease and disorder: Diseases transmitted through the placenta or due to placental dysfunction …of pregnancy is associated with congenital[britannica.com] The major phenotypic features of this rare syndrome are hypotonia, developmental delay, and facial anomalies.[ncbi.nlm.nih.gov] Overall, deletions of chromosome 19p13 are rare. 2009 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects.[ncbi.nlm.nih.gov] To our knowledge, this is the first case report of this unique chromosomal imbalance. Copyright 2013. Published by Elsevier B.V.[ncbi.nlm.nih.gov] Abstract The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date.[ncbi.nlm.nih.gov]

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  • Barth Syndrome

    Principal Clinical Diagnostic Criteria Growth Delay Growth delays are often observed early in infancy; however, the mean length of infants with Barth syndrome at birth is[web.archive.org] In these families, 9 males were stillborn and 14 died as neonates or infants but there were no losses of females.[ncbi.nlm.nih.gov] Instead, yeast Taz1p physically assembles in several protein complexes of distinct size and composition.[ncbi.nlm.nih.gov] Thus BSF has a lifeboat mentality, feeling like a small group up against overwhelming odds. They know they have to stick together.[forbes.com] The consequences of mitochondrial dysfunction and alterations to apoptosis signal transduction are considered in light of the potential for the development of future treatments[vivo.med.cornell.edu] More rare phenotypic features include hypercholesterolaemia, monocytosis, low prealbumin, low plasma carnitine and lactacidosis [3,4] .[journals.lww.com] Genetic analyses finally confirmed the diagnosis of BTHS, by showing a large intragenic deletion of exons 1 through 5 in the TAZ gene.[zora.uzh.ch] However, 3-MGC excretion may be normal even in severe cases.[orpha.net] We now report the identification of unique mutations in one of the genes in this region, termed G4.5, expressed at high level in cardiac and skeletal muscle.[ncbi.nlm.nih.gov] On August 27, 2001, Jacob suffered his first seizure. This was said to be a febrile seizure caused by virus. Jacob went on to have 5 seizures altogether.[medium.com]

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  • Neonatal Adrenoleukodystrophy

    No organized studies are, however, yet available on its relatively recently described neonatal variant.[ncbi.nlm.nih.gov] Other ocular findings include neonatal polar cataracts and strabismus. Figure 1.[aao.org] Neonatal adrenoleukodystrophy constitutes a distinct genetic disorder of autosomal recessive inheritance, and is distinguishable from the cerebro-hepato-renal syndrome of[ncbi.nlm.nih.gov] Sym-ptoms include cerebral nerve damage, mental decline, apraxia, aphasia, blindness, and quadriplegia.[medical-dictionary.thefreedictionary.com] Abstract This study reports that patients with neonatal adrenoleukodystrophy and Zellweger syndrome excrete a very peculiar pattern of organic acids.[ncbi.nlm.nih.gov] Vision and hearing dysfunction are progressive and result in blindness and deafness. Osteoporosis and fractures can occur in patients who are less mobile.[orpha.net] Abstract We describe the detailed clinical, pathologic, and biochemical features of brother and sister with the neonatal onset form of adrenoleukodystrophy, together with[ncbi.nlm.nih.gov] Is available as PLUS analysis (sequencing analysis and deletion/duplication analysis), sequencing analysis only or deletion/duplication analysis only Test Specific Strength[blueprintgenetics.com] In most cases, a severe adrenal insufficiency occurs: the adrenal glands are severely atrophied and plasma ACTH levels were markedly elevated.[ela-asso.com] These very-early-onset seizures may require unique diagnostic and therapeutic considerations, in contrast with the later onset of seizures in neonates.[ncbi.nlm.nih.gov]

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  • DiGeorge Syndrome

    However, the most common anomalies were in the face and joints. A correlation between the severity of expression and percent of monosomic cells was not clear.[ncbi.nlm.nih.gov] The prevalence of DiGeorge syndrome in the number of admissions for congenital heart disease among the neonates at our hospital was 3.14%.[ncbi.nlm.nih.gov] […] that distal deletions of chromosome 22q11.2 between LCR22-4 and LCR22-6, although they share some characteristic features with DGS/VCFS, represent a novel genomic disorder distinct[ncbi.nlm.nih.gov] RESULTS Cognition Table 2 shows the mental scale score (mean of 100 and standard deviation of 15), derived from the BSID-2, and mental age score.[doi.org] […] is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome.[doi.org] Despite features of T cell dysfunction, infection and autoimmunity (including juvenile idiopathic arthritis), uveitis has not been described in patients with DiGeorge syndrome[ncbi.nlm.nih.gov] Abstract We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association.[ncbi.nlm.nih.gov] The loss of additional genes in the deleted region likely contributes to the varied features of 22q11.2 deletion syndrome .[web.archive.org] Abstract We present the case history of a 3-year-old girl who was examined because of severe dystrophy.[ncbi.nlm.nih.gov] Seizure. 2009 Nov;18(9):648-51. doi: 10.1016/j.seizure.2009.07.003. Epub 2009 Aug 7.[ncbi.nlm.nih.gov]

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  • Ring Chromosome 20 Syndrome

    However, this is not usually the case for every cell in the patient.[en.wikipedia.org] RESULTS: Seizures in the neonatal period were described as motor seizures. Our personal patient with a neonatal onset had severe psychomotor delay.[ncbi.nlm.nih.gov] RESULTS: These studies revealed two distinct groups of patients.[ncbi.nlm.nih.gov] The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature Keywords: Ring chromosome 20 Epilepsy Mental retardation[kjp.or.kr] A potential role of cortical and thalamocortical dysfunction is discussed.[ncbi.nlm.nih.gov] […] with a characteristic EEG pattern, represent prominent additional clinical features not previously described in this syndrome.[ncbi.nlm.nih.gov] However, our patient presents the typical epilepsy disorder but no detectable deletion in the ring chromosome 20.[ncbi.nlm.nih.gov] She was administered thiopental anesthesia for 1year, and was subsequently left in severe neurological sequelae.[ncbi.nlm.nih.gov] Ictal EEG reveals a unique pattern. Our findings indicate a possible link between the percentage of affected cells and the age of epilepsy onset.[ncbi.nlm.nih.gov] The focal, presumed frontal, character of the seizures manifesting with fear and hypermotor behaviour and episodes of non-convulsive status epilepticus (NCSE) are most typical[ncbi.nlm.nih.gov]

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  • Smith-Magenis Syndrome

    However, the microdeletion was found in all metaphases by fluorescence in situ hybridization study with the probe D17S29 (for Smith-Magenis critical region on 17p11.2).[ncbi.nlm.nih.gov] The newborn was admitted on the Neonatal Intensive Care Unit (NICU), and various laboratory examinations and clinical examinations were performed.Throughout his hospitalization[ncbi.nlm.nih.gov] This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics.[ncbi.nlm.nih.gov] Abstract Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct[ncbi.nlm.nih.gov] 1 Wolf–Hirschhorn syndrome 4 Cri du chat / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge[en.wikipedia.org] Conclusions: SMS patients show dysfunction in the sustained component of the PLR to blue light.[ncbi.nlm.nih.gov] The skin features of SMS have rarely been reported in the literature.[ncbi.nlm.nih.gov] […] phenotype in the patients with 17p11.2 deletions.[ncbi.nlm.nih.gov] We used the Behavior Problems Inventory-01 to categorize the frequency and severity of behavioral abnormalities in a SMS cohort relative to individuals with intellectual disability[ncbi.nlm.nih.gov] Children and adults with SMS appear to have unique neurobehavioral problems that include: sleep disturbance, self-injurious and maladaptive behaviors, stereotypies, and sensory[ncbi.nlm.nih.gov]

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