Mental Retardation & Possibly Scoliosis & Tall Stature: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Mental Retardation, Possibly Scoliosis, Tall Stature,

Negated

None

Unsure

None

Possible Causes

Sotos Syndrome

A percentage of these patients develop progressive scoliosis early in life. [ncbi.nlm.nih.gov]

Abstract MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal [ncbi.nlm.nih.gov]

Constitutional tall stature Tall stature in childhood usually presents less initial concern than short stature because, at least in early childhood, being tall can be advantageous [childgrowthfoundation.org]

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Klinefelter Syndrome

Osteoporosis may lead to vertebral collapse and even scoliosis. [accessanesthesiology.mhmedical.com]

This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation. [ncbi.nlm.nih.gov]

These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. [ncbi.nlm.nih.gov]

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Homocystinuria

The two diseases should be differentiated because of the thrombotic risk in homocystinuria, and also because in this disease there is a possibility of treating the biochemical [online.boneandjoint.org.uk]

Classic homocystinuria presents initially with ectopia lentis, mental retardation, seizures and marfanoid features. [symptoma.com]

Autosomal recessive disease caused by cystathionine synthase deficiency Patients normal at birth, then begin to develop developmental delays History / PE : Marfan features (tall [medlibes.com]

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Marfan Syndrome

Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years. [nlm.nih.gov]

retardation Ehlers-Danlos syndrome distinguishing factor hyperextensible skin and easy bruising middle-sized artery aneurysms aortic aneurysms Treatment Management approach [step2.medbullets.com]

It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens A hereditary disorder [icd9data.com]

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Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

Other Possible Symptoms Curved spine, called scoliosis Ear infections Early puberty Farsightedness Hernia High levels of calcium in the blood Hoarse voice Joint and bone problems [webmd.com]

Physical Appearance Williams syndrome (nonfamilial supravalvular aortic stenosis) is characterized by peculiar facies, short stature, and mental retardation.7'8'14'51'83'178'183'231'232 [mitchmedical.us]

Search terms included short stature, tall stature, and growth hormone. [aafp.org]

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17q11 Microdeletion Syndrome

NF1; Type-1 NF1 deletions were found to be disproportionately associated with facial dysmorphic features (90% of patients), tall stature (46%), large hands and feet (46%), scoliosis [genatlas.medecine.univ-paris5.fr]

Abstract Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried [ncbi.nlm.nih.gov]

[…] nodules; Long foot; Low-set ears; Macrocephaly; Muscular hypotonia; Neurofibrosarcoma; Optic nerve glioma; Overgrowth; Pectus excavatum; Pes cavus; Plexiform neurofibroma; Scoliosis [mousephenotype.org]

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Marshall-Smith Syndrome

[…] laryngomalacia, glossoptosis, choanal stenoses, bilateral peripheral hearing defect, ventriculomegaly, congenital heart disease (atrial septal defect), chronic pulmonary disease, and scoliosis [ncbi.nlm.nih.gov]

Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. [ncbi.nlm.nih.gov]

stature Increased body height 0000098 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Umbilical hernia 0001537 [rarediseases.info.nih.gov]

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Trisomy X Syndrome

[…] part of the eyes (epicanthal folds), weak, flaccid muscle due to poor muscle tone, small size of head in contrast to whole body size, sideways bending of the back bone (scoliosis [phaa.com]

retardation Ovarian failure Posteriorly rotated ears Weak muscle tone Menstrual irregularities Having difficulty with interpersonal relationships Infertility Increased width [syndromespedia.com]

Cognitive and intellectual abnormalities - A variable degree of intellectual impairment, in addition to tall stature, is another key feature of trisomy X syndrome. [symptoma.com]

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Weismann Netter Syndrome

Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, [orpha.net]

Several of the WNS patients have also had mental retardation (MR), but the existence of a WNS-MR syndrome is still pending. [ncbi.nlm.nih.gov]

Type Brachioskeletogenital Syndrome Brachymesomelia Renal Syndrome Brittle Bone Disorder Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia camptodactyly-tall [rgd.mcw.edu]

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Duchenne Muscular Dystrophy

Ages at loss of ambulation or scoliosis diagnosis did not differ statistically among treatment groups. [ncbi.nlm.nih.gov]

Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed. [medterms.com]

Additionally, theoretical concerns have been raised that tall stature might be detrimental to muscle function in DMD. 100, 101 Until more evidence is available, the routine [ncbi.nlm.nih.gov]

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Weaver Syndrome

Hypertelorism and advanced bone age are frequent findings, whereas other notable findings of the musculoskeletal system are scoliosis, talipes equinovarus, and camptodactyly [symptoma.com]

The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed [ncbi.nlm.nih.gov]

However, tall stature is very common, reported in 90% of affected individuals. [zora.uzh.ch]

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Congenital Malformation Syndromes Involving Early Overgrowth

Less universal findings of Angelman syndrome include: microcephaly flat neck pale skin and fair hair widely spaced teeth tongue protrusion and open mouth scoliosis constipation [news-medical.net]

Mental retardation, distinct facial changes, short stature, obesity and hypogonadism: A new X-linked mental retardation syndrome. Am. J. Med. Genet. 31 :741–751. [link.springer.com]

Describe when treatment is indicated for children with short and tall stature. [pedsinreview.aappublications.org]

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48,XXYY Syndrome

leg ulcers, elbow abnormalities, curvature of the little finger (known as ‘clindactyly’), stretchy joints (known as ‘hypermobility’), curvature of the spine (known as ‘scoliosis [geneticdisordersuk.org]

[…] batthish144384 over a year ago Mental retardation is not a given with a diagnosis of 48, XXYY. [steadyhealth.com]

It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males. [ncbi.nlm.nih.gov]

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Absent Thumb - Short Stature - Immunodeficiency Syndrome

The eyes and skin are fragile and easily damaged, and blood vessel involvement is a possibility. [medical-dictionary.thefreedictionary.com]

hearing deficit, psychomotor retardation, severe mental retardation q35 3342549 P.B. [chr7.org]

stature, small testes, gynecomastia, learning & behavorial problems Term Definition defect in formation of cervical vertebrae short neck, low hairline, decreased cervical [flashcardmachine.com]

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Distal Trisomy 15q

[…] growth retardation * Postnatal growth retardation * Mental retardation * Head malformations * Facial malformations * Short neck * Finger malformations * Toe malformations * Scoliosis [checkorphan.org]

retarded boy with a proximal trisomy 15 syndrome. [onlinelibrary.wiley.com]

stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0000098 28 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539 29 abnormality of periauricular region [malacards.org]

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Neurofibromatosis Type 1

General information about patients was recorded, as were preoperative and postoperative scores from Scoliosis Research Society (SRS)-22 questionnaires. [ncbi.nlm.nih.gov]

All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development. [ncbi.nlm.nih.gov]

[…] deletions – dysmorphic facial features: hypertelorism, downslanting palpebral fissures, broad fleshy noses, “coarse" face becoming more marked with age, overgrowth with tall [doi.org]

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Coxoauricular Syndrome

[…] hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. [malacards.org]

[…] c MNT280 Mental Retardation, Autosomal Dominant 43 27 2196 c MNT213 Mental Retardation, Autosomal Recessive 40 27 2197 c MNT222 Mental Retardation, Autosomal Dominant 29 27 [malacards.org]

A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency [documentslide.com]

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Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio [ncbi.nlm.nih.gov]

Abstract We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. [ncbi.nlm.nih.gov]

Pseudodiastrophic dysplasia AR Unknown Spondyloepimetaphyseal dysplasia with joint laxity AR Unknown AD, autosomal dominant; AR, autosomal recessive; CATSHL, camptodactyly, tall [musculoskeletalkey.com]

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Distal Symphalangism

Five members of a kindred with brachydactyly and distal symphalangism, normal stature, pes cavus, and scoliosis were ascertained. [ncbi.nlm.nih.gov]

Página 320 - Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur [books.google.es]

stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954 24 camptodactyly 60 Occasional (29 [malacards.org]

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Postaxial Oligodactyly, Tetramelic

30% cases Flexion contracture Myopathy Short stature Symphalangism affecting the phalanges of the hand Aplasia of the middle phalanx of the hand Growth delay Hypertelorism Scoliosis [mendelian.co]

Mental Retardation Spasticity Ectrodactyly Mesomelia-Synostoses Syndrome Metaphyseal Anadysplasia Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies Microphthalmia [crrd.mcw.edu]

[…] x-linked 59;mrx59, mental retardation, x-linked, syndromic 21;mrxs21; Related symptoms: Intellectual disability Seizures Global developmental delay Generalized hypotonia Scoliosis [mendelian.co]

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Partial Trisomy 15q

Additional abnormalities typically include an unusually short neck; malformations of the fingers and/or toes; abnormal sideways curvature of the spine (scoliosis) and/or other [rarediseases.org]

trisomy 15q25-qter), only mild mental retardation may be present. [rarediseases.org]

trisomy 15q25-qter), affected individuals may exhibit abnormally tall stature. (For more information on trisomy 15q25-qter, see the “Causes” section below.) [rarediseases.org]

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48,XXXY Syndrome

Pulmonary embolism;HP:0002205 Recurrent respiratory infections;HP:0002564 Malformation of the heart and great vessels;HP:0002648 Abnormality of calvarial morphology;HP:0002650 Scoliosis [pediascape.org]

retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation Last updated: 8/10/2016 Research helps us better understand diseases and can [rarediseases.info.nih.gov]

While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes [unboundmedicine.com]

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Trisomy 15q

Additional abnormalities typically include an unusually short neck; malformations of the fingers and/or toes; abnormal sideways curvature of the spine (scoliosis) and/or other [rarediseases.org]

He had an abnormal neuropsychomotor development with severe mental retardation and abnormal behavior. [jamanetwork.com]

All of them presented with tall stature. The half-brother had developmental delay. [nature.com]

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Bhaskar-Jagannathan Syndrome

Syndrome dicarboxylic aminoaciduria diffuse infiltrative lymphocytosis syndrome Digitorenocerebral Syndrome Dincsoy Salih Patel Syndrome Dislocated Elbows, Bowed Tibias, Scoliosis [rgd.mcw.edu]

Retardation Mietens Weber Type Mental Retardation Smith Fineman Myers Type Mental Retardation Spasticity Ectrodactyly Mental Retardation Syndrome, Belgian Type Mental Retardation [rgd.mcw.edu]

stature-scoliosis-hearing loss syndrome CANOMAD Syndrome Cantalamessa Baldini Ambrosi Syndrome Cantu Sanchez-Corona Fragoso Syndrome Capgras syndrome capillary leak syndrome [rgd.mcw.edu]

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Roy-Maroteaux-Kremp Syndrome

Syndrome dicarboxylic aminoaciduria diffuse infiltrative lymphocytosis syndrome Digitorenocerebral Syndrome Dincsoy Salih Patel Syndrome Dislocated Elbows, Bowed Tibias, Scoliosis [rgd.mcw.edu]

stature-scoliosis-hearing loss syndrome CANOMAD Syndrome Cantalamessa Baldini Ambrosi Syndrome Cantu Sanchez-Corona Fragoso Syndrome Capgras syndrome capillary leak syndrome [rgd.mcw.edu]

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Prader-Willi Syndrome

The literature dealing with scoliosis surgery in PWS consists of only few case reports. [ncbi.nlm.nih.gov]

Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence. [icd9data.com]

However, these three individuals also have features not typical of classical PWS, including tall stature as a child, large head circumference, lack of a “PWS facial gestalt [nature.com]

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Chudley-Rozdilsky Syndrome

It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. [linkedlifedata.com]

MalaCards based summary : Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism, also known as chudley-rozdilsky syndrome, is related [malacards.org]

More on Disproportionate tall stature » Causes of Disproportionate tall stature Some of the causes of the condition may include: Causes of Disproportionate Tall Stature: 15q [familydiagnosis.com]

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Davis-Lafer Syndrome

Syndrome dicarboxylic aminoaciduria diffuse infiltrative lymphocytosis syndrome Digitorenocerebral Syndrome Dincsoy Salih Patel Syndrome Dislocated Elbows, Bowed Tibias, Scoliosis [rgd.mcw.edu]

stature-scoliosis-hearing loss syndrome CANOMAD Syndrome Cantalamessa Baldini Ambrosi Syndrome Cantu Sanchez-Corona Fragoso Syndrome Capgras syndrome capillary leak syndrome [rgd.mcw.edu]

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Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

[…] acheiropody achondrogenesis achondroplasia acrocapitofemoral dysplasia acrodysostosis Acrodysplasia Scoliosis Acrodysplasia with Ossification Abnormalities, Short Stature, [rgd.mcw.edu]

stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, [genda.com.ar]

Early scoliosis, sometimes early osteoarthritic lesions secondary to repeated dislocations; few cutaneous signs; dilatation of the arch of the aorta in 10%; frequent autonomic [sites.uclouvain.be]

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Metaphyseal Acroscyphodysplasia

Diseases related with Scoliosis and Craniosynostosis In the following list you will find some of the most common rare diseases related to Scoliosis and Craniosynostosis that [mendelian.co]

[…] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint dislocation Joint dislocations Recurrent joint dislocations [ more [rarediseases.info.nih.gov]

However, the disorder comes in a variety of forms, some of which cause serious problems including mental retardation, blindness, and deafness. [encyclopedia.com]

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