Presentation
No one knows every condition or syndrome that any of our patients may present to us, but we can be aware of when something seems out of the usual range of variation, particularly if more than one unusual feature is present. [pocketdentistry.com]
Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. [mendelian.co]
Lisch nodules were present. At the age of 8 years, a pilocytic astrocytoma in the suprasellar region involving the optic chiasm (first presenting symptomatically at 2 years of age), was partially resected. [genome.jp]
The aim of the present study was to c... Hickson, F.; Reid, D.; Weatherburn, P.; Stephens, M.; Nutland, W.; Boakye, P., 2004: HIV, sexual risk, and ethnicity among men in England who have sex with men. [wwe.geoscience.net]
Entire Body System
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Short Stature
Abstract In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures [ncbi.nlm.nih.gov]
[…] heart defect syndrome Short stature due to a defect in growth hormone receptor or post-receptor pathway Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to growth hormone resistance Short [orpha.net]
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS Is also known as hvdrr; hereditary vitamin d-resistant rickets; vddr ii; vdrr ii; vitamin d-dependent rickets type ii; vitamin d-resistant rickets type ii Related symptoms: Short stature Scoliosis Frontal bossing [mendelian.co]
stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]
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Short Stature
Abstract In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures [ncbi.nlm.nih.gov]
[…] heart defect syndrome Short stature due to a defect in growth hormone receptor or post-receptor pathway Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to growth hormone resistance Short [orpha.net]
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS Is also known as hvdrr; hereditary vitamin d-resistant rickets; vddr ii; vdrr ii; vitamin d-dependent rickets type ii; vitamin d-resistant rickets type ii Related symptoms: Short stature Scoliosis Frontal bossing [mendelian.co]
stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]
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Physician
Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]
Thus, at the inception of the ABMG, dentists along with physicians played key roles in defining and establishing the functions of a geneticist in patient care. [pocketdentistry.com]
In other words, it is made when a physician feels that a patient has enough of the features to warrant the label indicating association. [en.academic.ru]
The usefulness of the Noonan syndrome scoring system developed by van der Burgt et al. (1994) was demonstrated; when physicians based their diagnosis on the scoring system, the percentage of mutation-positive patients was higher. [genome.jp]
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Inguinal Hernia
Abstract In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures [ncbi.nlm.nih.gov]
hernia Pectus excavatum Joint laxity Blepharophimosis Craniosynostosis Sparse hair Dolichocephaly Everted lower lip vermilion Microdontia Widely spaced teeth Polycystic kidney dysplasia Narrow palpebral fissure Cutaneous finger syndactyly Fused teeth [mendelian.co]
The coarctation was repaired at age 14 days and bilateral inguinal hernias at age 5 weeks. At age 9 months, he was found to have congestive heart failure due to a restrictive cardiomyopathy. [genome.jp]
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Goiter
Arteriohepatic dysplasia Asymmetric crying face association Atretocephalus Autositic monster Bannayan syndrome Bardet-Biedl syndrome Beckwith-Wiedemann syndrome Biemond's syndrome Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter [emedcodes.com]
Atretocephalus Autositic monster Bannayan syndrome Bardet-Biedl syndrome Barth syndrome Basal cell nevus syndrome Beckwith Wiedemann syndrome Beckwith-Wiedemann syndrome Biemond's syndrome Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter [icd9data.com]
Type VII 4 Glycogen Storage Disease Type X 3 Glycogen Storage Disease Type XI 2 Glycogen Storage Disease Type XII 2 Glycogen Storage Disease Type XIII 2 Glycogen Storage Disease Type XV 3 Glycogen Storage DiseaseType IXb 3 Gnathodiaphyseal Dysplasia 2 Goiter [preventiongenetics.com]
Skin
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Purpura
Genetic testing - Family thrombocytopenic purpura (See Thrombocytopenia purpura family Purpuric). Genetic testing - Family vermis aplasia (See Joubert syndrome ...). [ivami.com]
1 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 1 Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 1 Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive 1 Thrombotic Thrombocytopenic Purpura [preventiongenetics.com]
Ears
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Low Set Ears
Diseases related with Low-set ears and Narrow chest In the following list you will find some of the most common rare diseases related to Low-set ears and Narrow chest that can help you solving undiagnosed cases. [mendelian.co]
Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect [wwww.unboundmedicine.com]
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Hearing Impairment
CLEIDOCRANIAL DYSPLASIA; CCD Is also known as cleidocranial dysostosis;clcd Related symptoms: Autosomal dominant inheritance Intellectual disability Short stature Pica Hearing impairment SOURCES: OMIM More info about CLEIDOCRANIAL DYSPLASIA; CCD Too many [mendelian.co]
A similar survey in Great Britain 2 found that approximately 25 percent of the population questioned had some hearing difficulty, and audiometric evaluation of a portion of that population found that 20 percent had a hearing impairment exceeding 25 dB [nejm.org]
Musculoskeletal
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Skeletal Dysplasia
Nearly 300 disorders are included in this entity; most of them are heritable diseases. 2 Although most of the diseases are rare, skeletal dysplasia as an entity is common. [mhmedical.com]
dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome. [wwww.unboundmedicine.com]
dysplasia Camptodactyly of finger Edema Low-set, posteriorly rotated ears Hypoplastic ischia Generalized hypotonia Postaxial hand polydactyly Frontal bossing Hernia Syndactyly Telecanthus Rhizomelia Talipes equinovarus Broad forehead Cleft lip Thoracic [mendelian.co]
Dysplasia Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratodermasyndrome Charge Syndrome Char Syndrome Chondrodysplasia Punctata 1, X-Linked Recessive Chromosome 14q11-Q22 Deletion Syndrome Chromosome 16q22 Deletion Syndrome Chromosome [familydiagnosis.com]
dysplasia-brachydactyly syndrome Skeletal dysplasia-epilepsy-short stature syndrome Skeletal dysplasia, Greenberg type Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Skeletal muscle disease Skeletal overgrowth-craniofacial dysmorphism-hyperelastic [orpha.net]
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Myopathy
4 Myopathy due to Myoadenylate Deaminase Deficiency 1 Myopathy with Extrapyramidal Signs 2 Myopathy With Lactic Acidosis, Hereditary 3 Myopathy, Centronuclear 4 Myopathy, Centronuclear, 1 4 Myopathy, Centronuclear, 3 1 Myopathy, Congenital, Compton-North [preventiongenetics.com]
FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy; hereditary hollow visceral myopathy; megaduodenum and/or megacystis Related symptoms: Microcephaly Micrognathia Cleft palate Anteverted nares Abnormality of cardiovascular [mendelian.co]
Genetic Testing - myopathy type VI collagen related (Collagen VI related myopathy) - Genes COL6A1, COL6A2 and COL6A3. Genetic Testing - myosin storage myopathy (Myosin storage myopathy) - Gen MYH7. [ivami.com]
310900 Occipital Hair, White Lock of OMIM:304150 Occipital Horn Syndrome; OHS OMIM:613587 Occult Macular Dystrophy; OCMD OMIM:164185 Ocular Cicatricial Pemphigoid; OCP OMIM:164190 Ocular Dominance OMIM:257550 Ocular Motor Apraxia OMIM:257600 Ocular Myopathy [informatics.jax.org]
[…] syndrome Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Sagliker syndrome Saint Louis encephalitis Saito-Kuba-Tsuruta syndrome Salamon syndrome Salcedo syndrome Saldino-Mainzer syndrome Salih ataxia Salih myopathy [orpha.net]
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Genu Valgum
valgum, wormian bones, fusion of carpal bones, delayed bone age and congenital clubfeet. [ncbi.nlm.nih.gov]
Idiopathic is the term used to describe genu valgum that is congenital or has no known cause. [wikidoc.org]
Diseases related with Frontal bossing and Genu valgum In the following list you will find some of the most common rare diseases related to Frontal bossing and Genu valgum that can help you solving undiagnosed cases. [mendelian.co]
Kozlowski type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia with enchondromatous changes Spondylometaphyseal dysplasia with severe genu [orpha.net]
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Muscular Atrophy
atrophy, adult form Spinal muscular atrophy associated with central nervous system anomaly Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Spinal muscular atrophy, Jokela type Spinal muscular atrophy-progressive myoclonic epilepsy [orpha.net]
Genetic testing - spinal muscular atrophy associated with the X chromosome (See spinal muscular atrophy types I, II, III, IV, ...). Genetic Testing - Spinal Muscular Atrophy dominant (See Spinal muscular atrophy type I, II, III, IV, ...). [ivami.com]
Dominant; SMALED 2 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 4 Spinal Muscular Atrophy, Type I 1 Spinal Muscular Atrophy, Type II 1 Spinal Muscular Atrophy, Type III 1 Spinal Muscular Atrophy, Type IV 1 Spinocerebellar Ataxia 21 1 Spinocerebellar [preventiongenetics.com]
Face, Head & Neck
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Frontal Bossing
Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect [wwww.unboundmedicine.com]
Diseases related with Frontal bossing and Genu valgum In the following list you will find some of the most common rare diseases related to Frontal bossing and Genu valgum that can help you solving undiagnosed cases. [mendelian.co]
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Low Nasal Root
nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age and congenital clubfeet. [ncbi.nlm.nih.gov]
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Low Nasal Root
nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age and congenital clubfeet. [ncbi.nlm.nih.gov]
Urogenital
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Cryptorchidism
Abstract In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures [ncbi.nlm.nih.gov]
[…] recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism [mendelian.co]
[…] defects: atrial — (10%) or ventricular — (less common) Heart murmur Cardiomyopathy Gastrointestinal system Failure to thrive as an infant Decreased appetite Digestive problems Frequent or forceful vomiting Swallowing difficulties Genito-urinary system Cryptorchidism [en.academic.ru]
Cubitus valgus, pulmonary valve stenosis, and patent foramen ovale, as well as cryptorchidism, were also present. [genome.jp]
Workup
[…] be called Noonan syndrome, pigmented villonodular synovitis, central giant cell granuloma, or cherubism, because each of these is a specific diagnostic entity sui generis and the use of such terms results in nosologic blinders that tend to limit the workup [genome.jp]
X-Ray
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Delayed Bone Age
bone age and congenital clubfeet. [ncbi.nlm.nih.gov]
bone age due to thyroid hormone metabolism deficiency Short stature-developmental delay-congenital heart defect syndrome Short stature due to a defect in growth hormone receptor or post-receptor pathway Short stature due to GHSR deficiency Short stature [orpha.net]
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Delayed Bone Age
bone age and congenital clubfeet. [ncbi.nlm.nih.gov]
bone age due to thyroid hormone metabolism deficiency Short stature-developmental delay-congenital heart defect syndrome Short stature due to a defect in growth hormone receptor or post-receptor pathway Short stature due to GHSR deficiency Short stature [orpha.net]
Treatment
Vaasa buy 100 mg lamictal with visa treatment 0f gout, Finland: Institutionen fr vrdvetenskap generic 25mg lamictal visa treatment xanthelasma, bo Akademi. [Caring skill as an academic direction. [sarcomacancer.org]
Although not every patient will manifest what is expected of someone with a particular diagnosis, these resources can help the practitioner better understand a patient’s condition and how it may affect treatment and how treatment may affect the patient [pocketdentistry.com]
Lymphedema Glossary Lymphedema Arm Lymphedema Leg Lymphedema Acute Lymphedema The Lymphedema Diet Exercises for Lymphedema Diuretics are not for Lymphedema Lymphedema People Online Support Groups Lipedema Treatment Lymphedema and Pain Management Manual [lymphedemapeople.com]
Contrary to common belief, no amount of orthotic treatment or bodybuilding exercise will straighten knock knees for adults. [wikidoc.org]
Height velocity increased from 4.4 /- 1.7 cm/year in the year before treatment to 8.4 /- 1.7, 6.2 /- 1.7, and 5.8 /- 1.8 during the first, second, and third years of GH treatment, respectively. [genome.jp]
Prognosis
[…] long philtrum Fetal alcohol syndrome - alcohol during pregnancy Cardiac - ASD, Renal - dysplastic kidneys, horseshoe kidney, DD, vision, hearing problems this baby has hypotonia, absent reflexes and hepatomegaly. he has a poor prognosis - expected to [brainscape.com]
Etiology
Advancements in genetic testing for those conditions that, because of their etiology, are amenable can make/confirm the diagnosis in some conditions. The clinical geneticist will order or recommend such tests when indicated. [pocketdentistry.com]
[…] syndrome Spondyloperipheral dysplasia-short ulna syndrome Spongy degeneration of the brain Spongy myocardium Spontaneous cerebrospinal fluid leak Spontaneous intracranial hypotension Spontaneous periodic hypothermia Sporadic adult-onset ataxia of unknown etiology [orpha.net]
Epidemiology
Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]
Prevention
Objectives: To examine ethnic group differences in HIV testing history and sexual HIV risk behaviours that may account for such differences, among men in England who have sex with men (MSM), in order to inform HIV prevention planning priorities. [wwe.geoscience.net]
Centers for Disease Control and Prevention Intersex [ Read More ] [icdlist.com]
Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP Am J Hum Genet 2018, 103(2): 221-231, doi: 10.1016/j.ajhg.2018.07.001 Relaxin Family Member Insulin-Like Peptide 6 Ameliorates Cardiac Fibrosis and Prevents [humangenetik-umg.de]
For norm, the immune activation that has been reported following an acute stressor (although prevention has also been reported) effect not be understandable with a persistent stressor, and definitely, in the latter instance immune functioning may be impaired [sarcomacancer.org]
[…] cardiomyocyte-specific gain-of-function Q79R mutation in the PTPN11 gene ( 176876 .0018), Nakamura et al. (2007) demonstrated that the developmental effects of Q79R cardiac expression are stage-specific and that ablation of subsequent ERK1/2 (see 176948 ) activation prevented [genome.jp]