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]
Sotos Syndrome
Other possible symptoms and signs can include: behavioral disturbances, intellectual disability, scoliosis, seizures, heart defects, kidney defects, weak muscle tone, stuttering[medicinenet.com]
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]
Marfan Syndrome
Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years.[nlm.nih.gov]
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.[emedicine.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]
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]
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]
Trisomy X Syndrome
At the follow up, this patient developed cyphosis and scoliosis. She continued to present asthma attacks and received inhaled corticosteroid with incomplete improvement.[latunisiemedicale.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]
Chudley-Rozdilsky Syndrome
It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.[linkedlifedata.com]
Human phenotypes related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism: 60 33 (show all 35) # Description HPO Frequency Orphanet[malacards.org]
Syndrome dicarboxylic aminoaciduria diffuse infiltrative lymphocytosis syndrome Digitorenocerebral Syndrome Dincsoy Salih Patel Syndrome Dislocated Elbows, Bowed Tibias, Scoliosis[rgd.mcw.edu]
XYY Syndrome
[…] flat feet ( pes planus ), fifth fingers that curve inward ( clinodactyly ), widely spaced eyes ( ocular hypertelorism ), and abnormal side-to-side curvature of the spine ( scoliosis[ghr.nlm.nih.gov]
Mental retardation was mostly borderline to mild, and severe mental retardation was rare.[ncbi.nlm.nih.gov]
RESULTS: Clinical examination revealed a tall stature and severe acne, and endocrinological/metabolic assessment revealed insulin resistance.[ncbi.nlm.nih.gov]
Growth Failure
On examination he was also noted to have a small chest, subcostal recession and a mild thoracolumbar scoliosis.[bone-abstracts.org]
The most severe mental retardation was noted in the group of children with a head circumference of minus 4 standard deviations or below.[pediatrics.aappublications.org]
Describe when treatment is indicated for children with short and tall stature.[pedsinreview.aappublications.org]
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]