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873 Possible Causes for Short Stature, Small Foot

  • Rothmund Thomson Syndrome

    Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands.[ncbi.nlm.nih.gov] […] eyeball 0000568 Osteoporosis 0000939 Short foot Short feet Small feet [ more ] 0001773 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palm 0004279[rarediseases.info.nih.gov] It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 20

    The cardinal features of Troyer syndrome include developmental delay, spastic paraparesis, dysarthria, distal amyotrophy, and short stature.[ncbi.nlm.nih.gov] When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com] SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269 PubMed:12134148}.[genecards.org]

  • Rett Syndrome

    A striking deceleration of growth has been found across all measurements in most girls with Rett syndrome who end up with short stature and microcephaly.[medicinenet.com] She also had short stature, was underweight, and had microcephaly. Her EEG showed bilateral occipital dominant high-voltage slow spike and wave complexes.[dx.doi.org] This patient had some features seen in RTT (severe intellectual disability, microcephaly, stereotypic movements, short stature, and scoliosis), but also had features not at[dx.doi.org]

  • Acrootoocular Syndrome

    […] foot ; Short metacarpal ; Short phalanx of finger ; Short stature ; Wide nasal base Associated Genes - Mouse Orthologs - Source OMIM:264475 (names, synonyms, disease associated[mousephenotype.org] stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347 11 delayed eruption of teeth 60 33 frequent (33%[malacards.org] stature Delayed skeletal maturation Kyphosis Gait disturbance Pain Milia Growth delay Pica Short stature Uveal melanoma Melanocytic nevus Abnormality of the eye Oropharyngeal[mendelian.co]

  • Prader-Willi Syndrome

    Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[icd9data.com] stature (adult), small hands and feet, mild dysmorphology, and behavior problems which can be severe.[curlie.org] Short stature and short hands and feet are typical of PWS. Growth retardation is common and such children fail to thrive.[symptoma.com]

  • X-Linked Syndromic Mental Retardation Type Armfield

    Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some[malacards.org] stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.[informatics.jax.org] […] retardation Armfield type X-linked intellectual disability, Armfield type Definition: A syndromic X-linked intellectual disability characterized by intellectual disability, short[zfin.org]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.[orpha.net] Andersen et al reported the case of a 8-years old with short stature, hypertelorism, broad nasal root, and defect of soft and hard palate. We thank Jørgen K.[whonamedit.com] […] paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short[orpha.net]

  • Sanjad-Sakati Syndrome

    Sanjad Sakati Syndrome /Dysmorphism/ short stature 30 Days of Hope: Day Nine #NICUphotography, #preemie, #NICU, #placentaprevia, #34weeks, #preemiesupportandawareness, #capturinghopes[pinterest.es] foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos[csbg.cnb.csic.es] ORPHA:2323 Synonym(s): HRD syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability-seizures syndrome[orpha.net]

  • Kenny-Caffey Syndrome Type 1

    Short and tall stature: a new paradigm emerges. Nat rev endocrinol. 2015;11:735–46.[springermedizin.de] ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce[mousephenotype.org] […] delay as children 0008897 Short foot Short feet Small feet [ more ] 0001773 Small hand Disproportionately small hands 0200055 Stenosis of the medullary cavity of the long[rarediseases.info.nih.gov]

  • Malnutrition

    Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites).[chop.edu] Drive closer and the sharp white peaks turn out to be a small Alps of salt — the Aral Tuz Company stockpile. Salt has been dug here for centuries.[nytimes.com] stature.[britannica.com]

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