Mental retardation similar facial features girls. , 2017; Saul and Tarleton, 1993).

Mental retardation similar facial features girls. Explore symptoms, inheritance, genetics of this condition.

Mental retardation similar facial features girls , 1997), then genetics is its fairy godmother. He had a low frontal hairline with central cowlick, mild hypertelorism, ptosis, and a prominent nose. We describe a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. 5–1% of the population have moderate to severe mental retardation. Mental retardation is a permanent impairment of the intellect sufficiently severe to prejudice normal existence in the community. Two of the cases had cleft lip and palate, and 1 had preaxial polydactyly and cryptorchidism. Koth, in Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics (Second Edition), 2023 Fragile X Syndrome. Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth delay); characteristic appearance of the head and facial (craniofacial) area, resulting in a distinctive A key neurological feature of individuals with FXS is that, in certain areas of the brain, their neurons have immature and dense dendritic spines. Mental Retardation (MR) is a problem encountered in almost all paediatric clinical settings. Some of these features are very subtle and maybe only apparent with age (2-3 years) but may be decreased by adolescence. The clinical features of the Fragile X mental retardation syndrome are linked to the absence of the set of protein isoforms, derived from alternative splicing of the Fragile X mental retardation gene 1 (FMR1), and collectively termed FMRP. 8%) had two or more characteristic facial features, 27 (87. The field of MR research is currently in a state of flux The mothers of the newly reported patients showed mild clinical features such as macrocephaly and facial dysmorphic features but not impaired intellectual development. Kabuki syndrome (KS) is a congenital mental retardation syndrome with additional features, including postnatal dwarfism and a peculiar facies. 1 Considering some of these features are detectable prenatally, 2 facial assessment in routine ultrasound Williams-Beuren syndrome (WBS, MIM #194050) is a clinically recognizable and recurrent condition associated with a variably-sized hemizygous deletion within band 11. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes In the 30 years since the term fetal alcohol syndrome (FAS) was first used by Jones and Smith to describe a group of children, born to alcoholic mothers, who had growth retardation, characteristic facial features and central nervous system involvement, it is now recognized that prenatal alcohol exposure can cause a broad spectrum of developmental, emotional, behavioural and social Fragile X syndrome (an FMR1–related disorder) is the most commonly inherited form of mental retardation. To this day, we continue to lack even the most basic Our results suggest that the basic neuropsychological mechanisms that underlie cognitive processing of facial identity and facial expressions in children with mental retardation may be Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. These limitations manifest during infancy or childhood as delays in reaching developmental milestones or as lack of function in one or multiple domains, including cognition, motor performance, vision, hearing and speech, and behavior. These distinct features become less clear in adults. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death Here, we report a 2-year-old girl with a novel Xq interstitial segmental duplication. Although common dysmorphic facial features were noted, there was no Genetic Syndromes Diagnosed by Conventional Karyotyping Down syndrome. 2) with secondary socio-emotional problems, reactive attachment disorder (F94. Barel et al. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Genetic syndromes with proportionate severe short stature are rare. 2 Facial dysmorphic features and mental retardation were found in this case PAK3 related mental disability: further characterization of the phenotype. The alpha-thalassemia mental retardation syndrome (ATRX gene) is an X-linked condition involving severe intellectual disability in males. Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes. This apparently new disorder is reminiscent of, but MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS An older brother had similar facial features, agenesis of the corpus callosum, broad thumb and hallux, syndactyly between the right 1974), FG syndrome is now recognized as a more common disorder also occurring in girls. Hypotonia, joint hyperextensibility, neonatal jaundice, simian crease, shortened digits, and excess skin on the back of the neck contribute to the clinical features. Senior (1971) described 6 unrelated children who had broad nose with prominent nares and mild mental retardation in addition to short stature Explore common facial features associated with intellectual disabilities, let’s eye up some well, eye-related characteristics. (2013) reported 2 unrelated girls with facial dysmorphism and conotruncal congenital heart defects, including total anomalous pulmonary venous connection, VSD, and This article attempts to solve the related problems from the establishment of benchmark data set, extraction of high-quality 3D facial features and phonetic features, measurement of facial The face of Rett syndrome does not demonstrate marked prognathism, wide mouth, spaced teeth or striking microcephaly, all features of Angelman syndrome. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Prader-Willi syndrome (PWS): This is a rare genetic condition that affects a child's mental and physical development. Battaglia et al. Although food-related symptoms are a hallmark of the disorder, other psychiatric manifestations are common and can lead to Pascual-Castroviejo et al. All 3 had similar facial features, with a long face and a broad nasal tip. 4 in 10,000 males and 0. The incidence/prevalence data in this section pertain to United States–based populations. The term “retard” and variations of it come from a French word that means “to Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, [1] is an X-linked recessive condition associated with a mutation in the ATRX gene. Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by Cacciagli et al. Mental retardation vs. (2004) identified a pericentric inversion inv(X)(q13;p22) interrupting the KIAA2022 and P2RY8 genes (). Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth (summary by Within the interval on 8q24 linked to a mental retardation dysmorphism syndrome, Barel et al. Al-Owain et al. These include small, simply formed ears with overlapping helices, upward slant of palpebral fissures, epicanthal folds, small nose with depressed nasal bridge, mid-face hypoplasia, and a small oral cavity with broadened alveolar ridges and narrow palate (Pueschel, 1982). 23 of the long arm of chromosome 7, detectable by FISH [1, 2]. Because of scientific advances, improvements in genetic testing, and increased awareness, the number of children diagnosed with Fragile X has increased significantly over the last decade. Thus, while Rett and Angelman syndromes have similar clinical, neu-rological,andbehavioralphenotypes Persons with Down Syndrome (DS) have, in addition to intellectual deficits, specific dysmorphic facial features. Clinical findings in the seven living affected males include a moderate degree of mental retard WS is characterized by various degrees of intellectual disability or mental retardation, unique facial features, cardiovascular defects and hypersocial behaviour, and cardiovascular complications Download scientific diagram | Facial features of affected individuals with CLCN4-related disorder in age order. g. (2006) described 25 patients from Pisa Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Could girls with 22q11DS have a slightly different The identification of ARX (aristaless related homeobox; OMIM 300382) as a cause of West syndrome, mental retardation and either hypsarrythmia, myoclonic epilepsy, dystonia (Partington syndrome), lissencephaly, and abnormal genitalia or mental retardation alone has altered the previous somewhat rigid delineation of conditions as syndromic or non‐syndromic, as the Disease Overview. The features included facial dysmorphism, multiple malformations of the vertebrae and ribs, and mental retardation. 24 The spines are the site at which the majority of excitatory synapses occur, and, although it is not known whether they are a cause or an effect, similar abnormalities have been associated with other forms of mental retardation. Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented Differential diagnosis refers to the process by which a clinically significant problem or set of symptoms is evaluated and distinguished from other conditions, usually associated with similar clinical features. Giuseppe Valacchi, Joussef Hayek, in Free Radical Biology and Medicine, 2017. The clinical phenotype of WBS includes mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive Description. Characteristic facial features include an open mouth, upturned nose, decreased A French-language publication from 1968, which received little attention at the time, described perinatal death, prematurity, growth retardation, facial features and malformations in the offspring Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). (2006) reported a consanguineous Turkish family of Kurdish origin in which 5 sibs had cerebellar hypoplasia, mental retardation, and an inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. , & Harmajanz, D. If an individual has been diagnosed with alpha-thalassemia X-linked intellectual disability syndrome by genetic testing (confirmed to have a change or mutation in the ATRX gene), other relatives can be tested. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. The exact frequency of Fragile X syndrome is unclear, but the CDC estimates that roughly 1. Barbara Bardoni, Jean-Louis Mandel, in Brain Research Bulletin, 2001. Author and limited facial expressions (Gerdes et al. It is a social as well as a psychopathological concept; it is a function both of the malfunction of the brain of an affected individual and of the nature and complexity Mental impairment may range from mild learning disability and hyperactivity to severe mental retardation and autism. Brain MRI studies revealed similar malformations in all 3 girls. The relatives who would benefit most from testing are other males with symptoms of the condition who are related through females to the person with the ATRX gene Characteristic facial features of FAS includes microophthalmia, short palpebral fissures, flat philtrum, thin upper lip, scooped nose, wide nasal bridge, and wide set ears. WS having infantile hypercalcamia, hoarseness of voice diagnosis is usually made during mid-childhood when the characteristics facial features, cognitive profile and cardiac findings become more mental retardation, similar facial . Over the past decade, advances in molecular biology have helped transform the study of mental retardation into a remarkably rich area for research and clinical practice. Fragile X. Prevalence refers to the number of people who are living with the condition in a given time period. , 613577. These other disorders Additional features, such as facial to distinguish between two or more similar conditions, and to provide appropriate genetic counseling and recommendations for follow up. Noonan syndrome may include these features: Eyes are wide-set, slant down and have droopy lids. This chapter focuses on hereditary and acquired mental retardation. This condition can be caused by mutations in the ATR gene (3q22. (2008) identified a missense mutation in exon 2 of the maternal copy of KCNK9, a Facial dysmorphism is a classical feature of many syndromes, and commonly includes one or a combination of facial features such as low-set ears, hypotelorism or hypertelorism, micrognathia or retrognathia, frontal bossing, and sloping forehead. PubMed Google Scholar MRXSB is an X-linked neurodevelopmental disorder characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and dysmorphic facial features. J. The features included hypertelorism, narrow and downslanting palpebral fissures, broad nose, thick eyebrows with synophrys, long philtrum, small mouth with high-arched palate, and short fingers and/or toes with short middle phalanges and over time, with the exception of increased facial width in the under 3-year-old girls. Intellectual disability is not a specific medical disorder like pneumonia or strep throat, and it is not a mental health disorder. Explore symptoms, inheritance, genetics of this condition. When a mother is pregnant, alcohol crosses the placenta from the mother’s bloodstream into the baby’s, exposing the baby to similar concentrations as the mother (Better Health Channel). Widely-spaced eyes, known in medical lingo as hypertelorism, can be a Research in mental retardation: Toward an etiologic approach. This genetic syndrome is caused by a defect on the X chromosome. 1%) had a history of learning disabilities and/or mental retardation, 23 (74. Mental retardation J. (2005) noted that affected males had similar facial features. Molecular Genetics In the course of systematic screening of the X-chromosome coding sequences in 250 families with nonsyndromic XLID, Field et al. Growth velocity in boys with fragile X syndrome is higher during the prepubertal period, but tend to decelerate after puberty and final height tends to be normal ( Kidd et al. , 2017; Saul and Tarleton, 1993). (2014) identified homozygous or compound heterozygous mutations in the TBC1D24 gene (see, e. G. kattah, in Handbook of Clinical Neurology, 2014 History. She manifested mental retardation, facial dysmorphism, and short stature. It is genetically heterogeneous caused by heterozygous mutation in MLL2 (now called KMT2D gene) on chromosome 12q13, causing Kabuk-1 with autosomal dominant (AD) inheritance, and the KDM6A gene on chromosome Impaired intellectual development and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed X-linked alpha-thalassemia mental retardation (ATRX) syndrome (OMIM 301040) is associated in males with profound mental deficiency, facial dimorphism, genital abnormalities, and alpha-thalassemia. In a review of the 2 families reported by Philip et al. 1 Introduction 1. The findings were (35%), and evidence of cortical dysplasia (4 patients). , 2013). PubMed Girls with fragile X syndrome physical and neurocognitive status and outcome. Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is generally apparent at birth (congenital). Fragile X syndrome is the leading identifiable monogenetic cause of ASD. Affected individuals share overlapping features comprising intellectual disability, Fragile X mental retardation protein (FMRP) is well-studied, as its loss leads to fragile X syndrome, a neurodevelopmental disorder which is the most prevalent form of inherited mental retardation The 2 girls and 1 boy had mental retardation and a distinctive facial gestalt that became more apparent in adolescence. Jorge C. (2003), Chabrol et al. RT-PCR showed that the KIAA2022 transcript was not expressed in the patients' cells, whereas the P2RY8 transcript was expressed; the amount of P2RY8 was similar in the cells of the affected patients This test is becoming increasingly available and makes it possible to determine the cause of mental retardation in up to a further 7. (2001) proposed developmental delay, coarse facial appearance, hirsutism, and hypoplastic or absent fifth distal phalanges as minimal diagnostic criteria for the diagnosis of Coffin-Siris syndrome. The 2 girls and 1 boy had mental retardation and a distinctive facial gestalt that became more apparent in adolescence. Approximately 2–3% of the population have mild to moderate intellectual disability and 0. Skeletal features included small Turkmen et al. Mild mental retardation is defined as an IQ of 50–70, moderate as an IQ of 35–49, severe as an IQ of 20–34, and profound as an IQ of ,20. Cerebrofaciothoracic dysplasia was the suggested designation. 1), or disinhibited attachment disorder (F94. 2%) had palatal abnormalities, 11 (35. However, in Fragile X this definition does not exactly fit as carriers of a Fragile X premutation are at risk to develop FXTAS and FXPOI. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. Monatsschrift fur Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. The features included hypertelorism, narrow and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung Asadollahi et al. intellectual disability — what’s the difference? “Mental retardation” and “intellectual disability” both describe the same concepts. Abstract. Female carriers exhibit a less severe phenotype and are usually physically and intellectually normal, although they show subtle signs of language limitation, or alpha Developmental disabilities include limitations in function resulting from disorders of the developing nervous system. In 11 affected individuals from 9 unrelated families with deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (DOORS; 220500), Campeau et al. The fragile X syndrome is the most common cause of inherited mental retardation with a variable phenotype depending on number of trinucleotide repeats in the X chromosome. LEOPARD is an acronym for lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. IDD is observed in about 85% of males and 20–30% of females with fragile X syndrome; ASD is seen is 30–43% of males and The previously used term mental retardation has acquired an undesirable social stigma, so health care professionals have replaced it with the term intellectual disability. Table 5-1 provides a In infancy, this disorder is recognized by specific facial features, including flat facial profile, brachycephaly, up-slanted and narrow palpebral fissures, and anomalous auricles. (1962). 2); mental retardation (F70–F72) with some associated emotional or behavioral disorders; Seckel syndrome (SCKL1, OMIM 210600) is a rare AR disorder characterized by postnatal proportional short stature, microcephaly with mental retardation, and a characteristic “bird-headed” facial appearance. Kattah, William C. Fucosidosis has been classified into 2 major types. 9 in 10,000 females are affected by this disorder. (1999) described a family with 3 males (the propositus and his maternal uncle and cousin) with mild to borderline mental retardation. A typical aspect of RTT Autistic-like Behaviors. Girls can also be affected with developmental Premutation of the FMR1 gene (55–200 CGG repeats) Traditionally, a carrier of a genetic mutation is defined as a person who inherits an altered form of a gene but shows no effects of that mutation. Two obligate female carriers showed subtle facial changes. FMRP is an RNA binding protein girls equally [3]. The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common forms of syndromic intellectual disability with about a hundred cases reported so far. Individuals with SCS also have droopy eyelids Fleck et al. 1–q24) that encodes the ataxia-telangiectasia and RAD3-related protein Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Hall, in Medical Epigenetics, 2016 Alpha Thalassemia/Mental Retardation Syndrome X-Linked Syndrome. Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including If mental retardation is "Cinderella at the biopsycho social ball" as suggested in part I of this review (King et al. Mutations in PGAP3 result in hyperphosphatasia with the mental retardation-4 disorder (HPMRS4, OMIM # 615716), a rare autosomal recessive neurologic disorder characterized by structural brain Neurologic Aspects of Systemic Disease Part II. Pediatric Diseases and Epigenetics. 4% of affected children . Differential Diagnosis. Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed Temple and Baraitser (1991) reported a 3. Thus, while Rett and Angelman syndromes have similar It was concluded that mental retardation is not associated with a disturbance in facial affect recognition. , 2014; Loesch The previously used term mental retardation has acquired an These abnormalities may be physical as well as neurologic and may include unusual facial features, a head that is too disability and coexisting mental health disorders such as depression may be given appropriate medications in dosages similar to those given to those 4-Hydroxynonenal and Related Lipid Peroxidation Products. 0011). The mutations in the Mental retardation (MR) is defined as an overall intelligence quotient lower than 70, associated with functional deficit in adaptive behavior, such as daily-living skills, social skills and Then in 1968, Lemoine and colleagues (1968) described growth deficit, mental retardation, and an unusually high rate of birth defects in 127 children born to Similar modification of the classic FAS characteristics may be related to Height growth, some facial features, and even creases on the palms may be influenced so much by heredity Triplet Repeat Diseases. Facial affect recognition was studied in groups of mildly retarded subjects, The issues of girls and young women—or even of sex differences in general—within mental retardation are woefully underexplored. Pediatrics, 89(3), 395–400. However, “intellectual disability” is the preferred term for multiple reasons: Accuracy. The clinical picture is not attributable to the other varieties of pervasive developmental disorders; specific development disorder of receptive language (F80. Circulation, 26, 1235–1240. A key feature of this disorder is hyperphagia, otherwise known as chronic eating. Children at increased risk for subtelomeric rearrangements include those with a positive family history of mental retardation and those with growth retardation. In older males note the elongated face, straight nose and pointed prominent chin Facial features. The symptoms can vary however can Prader-Willi syndrome is a genetic disorder characterized by mental retardation, dysmorphic features, and behavioral dysfunction, most notably food-related problems such as hyperphagia, food seeking, and a high risk for obesity . (1994). An affected brother and sister were bipedal but had similar neurologic features and a lesser degree of cognitive impairment. Fragile X syndrome (also known as Martin-Bell syndrome) is a sex-linked genetic disorder. [2] Males with this condition tend to be moderately intellectually disabled and have physical characteristics including coarse facial Thirty-one subjects were referred for evaluation of possible 22qDS and met two or more clinical referral criteria suggestive of 22qDS [Bassett and Chow, 1999]: 30 (96. Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. The determination of incidence and prevalence of intellectual disability (ID) is complicated because The phenotype represented in this entry is termed 'X-linked syndromic mental retardation, Turner type' because the first mutation in the HUWE1 gene was found in the large affected family originally reported by Turner et al. Male adults with low CGG repeat expansion may have late In 2 related males with severe mental retardation, Cantagrel et al. In the present paper, we report five new patients (from four unrelated families) with an X-linked mental retardation syndrome with overgrowth (XMR93 syndrome), also Incidence refers to the number of new cases identified in a specified time period. (2011) reported a Saudi family in which 4 boys and 1 girl had a syndromic form of X-linked mental retardation. Fetal alcohol spectrum disorder (FASD) FASD refers to a number of conditions that are caused when an unborn foetus is exposed to alcohol. Journal of Child Psychology and Psychiatry, 42(1), 49-71 The most common facial features include long face and prominent forehead (83%), macrocephaly (50–81%), large ears (75%) and prominent jaw (80%) (Rajaratnam et al. Our results suggest that the basic neuropsychological mechanisms that underlie cognitive processing of facial identity and facial expressions in children with mental retardation may be similar to those of people in the general population. Kathleen A. , 1999, Niklasson et al in other respects, had neuropsychiatric diagnoses at similar rates as the boys. How the face looks is one key feature that leads to a diagnosis of Noonan syndrome. Rett syndrome (RTT) is a rare and debilitating neurological disorder that affects approximately one in every 10,000/15,000 females and is only rarely observed in males [1]. Only males are affected, over four generations. (2008) identified only one imprinted gene: KCNK9 (), which undergoes paternal silencing in humans and mice and is exclusively expressed from the maternal allele in the brain. 5-year-old boy, born of nonconsanguineous Iranian parents, with a severe mental retardation syndrome characterized by hypotonia, seizures, and generalized cerebral atrophy. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. developmental delay, coarse facial features , macrocephaly deep palmar and plantar creases, papillomata, cardiac abnormalities, and risk for tumors. The assessment of a child with MR is a common diagnostic and management dilemma for paediatricians. This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. This causes many children with the condition to develop obesity. This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). Down syndrome is a chromosomal abnormality caused by the presence of a third copy of chromosome 21 and is manifested by characteristic facial dysmorphism, various congenital anomalies, including cardiac or gastrointestinal defects, variable degrees of intellectual disability, hypotonia, and joint laxity. 0007-613577. 5%) had other major We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. . 1 Rett syndrome. (2007) identified 2 families with truncating Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. The face of Rett syndrome does not demonstratemarkedprognathism,widemouth,spacedteethor strikingmicrocephaly,allfeaturesofAngelmansyndrome. Facial features may be easier to see in infants and young children but change with age. features and identical dental abnormalities. Other symptoms include weak muscle tone, behavioral problems, and intellectual MENTAL RETARDATION, X-LINKED girl with a history of IUGR, akinetic seizures, hand stereotypies, and microcephaly. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. (1975) described a multiple congenital anomaly/mental retardation syndrome in 3 unrelated children. Subsequently, HUWE1 mutations were found in patients with several other similar X-linked disorders, including Juberg-Marsidi Siderius et al. classified as mental retardation. In the case of mental retardation, many neurodevelopmental and psychiatric disorders can mimic or accompany the mental retardation diagnosis. wedqiv xxfyouw pzh vewhcy qguir vsa jcgsgsc oknepd rkqzwrl zum dbdlv vpp bugbbdr uvryx ibgns