Pediatrics: Rehabilitation Medicine Quick Reference presents 111 alphabetically arranged topics covering all major concerns in pediatric rehabilitation. [books.google.com]

ORPHA:3268 Synonym(s): Giuffré-Tsukahara syndrome Tsukahara syndrome Prevalence: Inheritance: Unknown Age of onset: Antenatal, Neonatal ICD-10: - OMIM: 603438 UMLS: C1863881 MeSH: - GARD: 394 MedDRA: - The documents contained in this web site are presented [orpha.net]

Systemic Features: Psychomotor disabilities and developmental delays are present. Walking does not occur until the age of about 2 years and speech is present by 5 years. No dysmorphic features or other organ disease are present. [disorders.eyes.arizona.edu]

The wrist joint in CRUS had three levels of radial and ulnar bone location: 68.6% present the (0) variant (articular plates located at the same level), 5.7% present the (–) variant (the ulnar head was located proximal to the radius articular plate); and [journals.eco-vector.com]

In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]

• Short Stature

  More Symptoms of Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation » • • • Back to: « Radioulnar synostosis Diagnosis See also related information on diagnosis: Diagnosis of Microcephaly Diagnosis of Short Stature [familydiagnosis.com]

  MalaCards integrated aliases for Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation: Name: Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 57 73 Tsukahara Syndrome 57 59 [malacards.org]

  Birth length was 45 cm(2.0 SD) and she has been of short stature throughouther development. [documents.tips]

  stature and intellectual deficit. [rarediseases.info.nih.gov]

  9-year- old boy with radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation, a previously unreported syndrome. [docslide.com.br]

• Falling

  Hypokalemic Periodic Paralysis September 27, 2018 by Peter Ciszewski Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia). [checkrare.com]

  […] and Ichthyosis, related diseases and genetic alterations Abnormality of the skeletal system and Downslanted palpebral fissures, related diseases and genetic alterations Hepatomegaly and Open mouth, related diseases and genetic alterations Ptosis and Falls [mendelian.co]

  In two patients, ulnar fractures occurred as a result of a fall; in one of these patients, fragment apposition was required. Conclusions. Clinicoroentgenological manifestations of CRUS determine the treatment options. [journals.eco-vector.com]

  The height of 47,XXY boys under age 3 falls within normal distributions. [glowm.com]

  SMN1 and SMN2 genes AR clinical features- arthryogryposis, peripheral nerve hypomyelination SMA Type 1- onset 0-6 months, muscle weakness, early death SMA Type 2- muscle weakness, onset after 6 months, hypotonia SMA Type 3- weakness leads to frequent falls [quizlet.com]

• Fever

  Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. [checkrare.com]

  Marked ulnar deviation at the metacarpophalangeal joints, suggesting rheumatoid arthritis, can be due to repeated attacks of rheumatic fever and is known as Jaccoud's or post-rheumatic fever arthritis. [arthritisresearch.us]

  Pyridoxal phosphate- responsive seizures 0.2 P * 3006 Pyridoxine-dependent epilepsy 0.2 BP * 3008 Pyruvate carboxylase deficiency 0.4 BP * 353320 Pyruvate carboxylase deficiency, benign type 10 Cases 2394 Pyruvate dehydrogenase E3 deficiency 20 Cases 781 Q fever [azkurs.org]

  Crisponi syndrome 0 *Fever *Death, Sudden *Hand Deformities, Congenital *Trismus/congenital *Facies Muscle Contraction. Clark- Baraitser syndrome 0 *Growth Disorders *Hydrocephalus *Obesity *Facies *Mental Retardation, X-Linked. [reference.md]

  *retractile testis 【移動性舌炎】*glossitis migrans (一) 【一次性結核】*primary tuberculosis 【一側性声帯炎】*monochorditis (印) 【印環細胞癌】*signet-ring cell carcinoma (飲) 【飲食困難】【飲食障害】*dysdipsia (＝摂食障害) (咽) 【咽頭炎】*pharyngitis 【咽頭乾燥症】*pharyngoxerosis 【咽頭結膜熱】*pharyngoconjunctival fever [medo.jp]

• Anemia

  Imaging Features of Fanconi Anemia Fanconi anemia is a genetically and phenotypically heterogeneous recessive disorder of progressive pancytopenia, various congenital malformations, and predisposition to hematologic and solid malignancies. [roentgenrayreader.blogspot.com]

  death in neonatal period; HbH disease- loss or dysfunction of 3 or 4 alpha alleles, microcytic hypo chromic hemolytic anemia, jaundice Trait- low MCV- do Hb elect, molecular testing for common mutations (deletions) HBB AR clinical features- severe anemia [quizlet.com]

  […] disorders: Introduction The pituitary gland The parathyroid glands Disorders affecting gender expression The thyroid The adrenals Diabetes mellitus Part Eleven: Hematological disorders Hematological disorders: Introduction Disorders of red blood cells (anemias [corp.credoreference.com]

  Differential diagnosis: Apert syndrome, chromosomal aberrations, Fanconi anemia, Holt–Oram syndrome, multiple pterygium syndrome, Roberts syndrome, Smith–Lemli–Opitz syndrome, TAR syndrome. [radiologykey.com]

  】*malignant ameloblastoma 【悪性高熱症】*malignant hyperthermia 【悪性黒色腫】*malignant melanoma (略 MM) 【悪性腫瘍】*malignant tumor *malignancy 【悪性新生物】*malignant neoplasm (＝悪性腫瘍) 【悪性組織球症】*malignant histiocytosis (略 MH) 【悪性中皮腫】*malignant mesothelioma 【悪性貧血】*pernicious anemia [medo.jp]

• Trisomy 21

  21 Trisomy 8 Deletion 5p Turner's syndrome Klinefelter's syndrome Skeletal dysplasias due to congenital metabolic disorders Mucopolysaccharidoses Mucolipidoses Lipid storage diseases Part Thirteen: Neoplastic conditions General principles of neoplasia [corp.credoreference.com]

  21, Down syndrome 95% de novo, 5% due to robertsonian translocation clinical features- MR, hypotonia, growth delay, adult cataracts, heart defect, hearing loss, duodenal atresia, early onset Alzheimers, ALL maternal serum screen- high hCG and inhibit [quizlet.com]

  The well-recognized characteristics of Down's syndrome (trisomy 21) include a small head, shallow orbits, epicanthal folds, low-set ears, widely spaced eyes ( hypertelorism ), Brushfield's white spots of the iris, protruding tongue, transverse palmar [arthritisresearch.us]

  21 or 22 G 758.1 Patau's syndrome Trisomy: 13 D1 758.2 Edward's syndrome Trisomy: 18 E3 758.3 Autosomal deletion syndromes 758.31 Cri-du-chat syndrome Deletion 5p 758.32 Velo-cardio-facial syndrome Deletion 22q11.2 758.33 Other microdeletions Miller-Dieker [theodora.com]

• Hemophilia A

  […] sickness 【血栓症】*thrombosis 【血栓性静脈炎】*thrombophlebitis 【血栓性動脈内膜炎】*thromboendarteritis 【血栓塞栓症】*thromboembolism 【血痰】*bloody sputum *hemosputum *sputum cruentum[L] 【血鉄症】*hemosiderosis 【血糖症】*glycemia 【血尿】*hematuria *erythruria [赤血球尿症] *urina cruenta[L] 【血友病】*hemophilia [medo.jp]

• Pneumonia

  (化) 【化学性歯周炎】*chemical periodontitis 【化学性食道炎】*chemical esophagitis 【化学性肝炎】*chemical hepatitis 【化学性肺炎】*chemical pneumonia *chemical pneumonitis 【化骨性線維腫】*ossifying fibroma *osteogenic fibroma *fibrous osteoma 【化生】*metaplasia 【化膿】*suppuration *purulence [medo.jp]

  Hemochromatosis Definition Genetic (primary, hereditary, idiopathic) hemochromatosis Acquired hemochromatosis Paleopathology Part Seven: Infectious diseases Infectious Diseases: Introduction Bacterial Infections Tuberculosis Leprosy Treponematosis Osteomyelitis Pneumonia [corp.credoreference.com]

  […] jaundice, self-limited hepatitis-like illness, neurologic presentation- movement disorder, disorganization of personality increased copper storage, high urine copper X-linked agammaglobinemia (immune deficiency) BTK gene X-linked clinical features- pneumonia [quizlet.com]

  Long nose Delayed gross motor development Narrow palate Long eyelashes Broad thumb Intestinal malrotation Dental malocclusion Prominent nose Hirsutism Eclampsia Highly arched eyebrow Carious teeth Autistic behavior Genu valgum Autism Congenital onset Pneumonia [mendelian.co]

• Stridor

  Long clavicles Coronal cleft vertebrae Cerebral cortical atrophy Neonatal hypotonia Lethal skeletal dysplasia Involuntary movements Psychomotor deterioration Scanning speech Head tremor Arteriovenous malformation Abnormality of visual evoked potentials Stridor [mendelian.co]

  Cleft thyroid, cartilage, congenital Congenital: dilation, trachea stenosis: larynx trachea tracheocele Diverticulum: bronchus trachea Fissure of epiglottis Laryngocele Posterior cleft of cricoid cartilage (congenital) Rudimentary tracheal bronchus Stridor [theodora.com]

• Cough

  /せき/ 【咳喘息】*cough variant asthma (略 CVA) (顎) 【顎関節機能障害】【顎関節機能異常】*temporomandibular dysfunction 【顎口蓋裂】*gnathopalatoschisis 【顎口虫症】*gnathostomiasis (含) 【含気性腹膜炎】*pneumoperitonitis 【含歯性嚢胞】 *dentigerous cyst (癌) 【癌】【癌腫】*carcinoma *cancer 【癌腫症】【癌多発症】*carcinomatosis [medo.jp]

• Vomiting

  […] dislocation Short finger Short metatarsal Rhizomelia Progressive spastic paraparesis Encephalocele Limb undergrowth Short metacarpal Talipes Narrow chest Respiratory failure Respiratory distress Frontal bossing Rapid neurologic deterioration Projectile vomiting [mendelian.co]

  Affected infants may also have feeding difficulties (poor sucking function, prolonged feeding time, recurrent vomiting and reflux), which typically get better by age 1 or 2. [flipper.diff.org]

  […] clinical features- macrocephaly, lack of head control, developmental delays, severe hypotonia, never sit or walk or speak High urine N-acetyl aspartic acid (NAA) common in AJ population IKBKAP gene AR clinical features- progressive, GI dysfunction, vomiting [quizlet.com]

  /*vomition/*vomitus *emesis (カ) 【カタル性胃炎】*catarrhal gastritis 【カタル性炎】*catarrhal inflammation 【カタル性舌炎】*catarrhal glossitis *glossitis catarrhalis[L] 【カフェオーレ斑】*cafe-au-lait spot 【カポジ肉腫】*Kaposi's sarcoma 【カリウム血症】*kalemia 【カリウム欠乏症】*kaliopenia 【カリニ肺炎】*pneumocystis [medo.jp]

• Diarrhea

  […] dermatitis 【アナフィラキシー】*anaphylaxis 【アフタ】*aphtha (形 *aphthous) 【アフタ性咽頭炎】*aphthous pharyngitis 【アフタ性潰瘍】 *aphthous ulcer 【アフタ性口内炎】 *aphthous stomatitis 【アフタ性歯肉炎】 *aphthous gingivitis 【アミロイド症】【アミロイドーシス】*amyloidosis ＝類澱粉沈着症 【アメーバ症】*amebiasis 【アメーバ性下痢】*amebic diarrhea [medo.jp]

  Whipple's disease is suggested by the combination of polyarthritis, abdominal pain, and diarrhea. [arthritisresearch.us]

• Cyanosis

  Differential cyanosis often provides a clue to exact pathologic anatomy.72 Cyanosis and clubbing of the toes associated with pink fingernails of the right hand and minimal cyanosis and clubbing of the left hand are due to pulmonary hypertension with normally [arthritisresearch.us]

  Evaluation for co-occurring conditions should be guided by clinical judgment and the presence of worrisome signs or symptoms (e.g., cyanosis or edema) and may include: Renal: aplastic/hypoplastic/dysplastic kidneys, “horseshoe” kidneys/ureteral duplications [medicalhomeportal.org]

  】*monomyositis 【単麻痺】*monoplegia (炭) 【炭疽】*anthrax 【炭粉沈着症】*anthracosis (短) 【短顎[症]】*brachygnathia 【短頚症】*brevicollis 【短頭症】*brachycephaly/*brachycephalia/*brachycephalism (蛋) 【蛋白蓄積症】【蛋白症】*proteinosis 【蛋白尿症】*proteinuria *[＝アルブミン尿症] albuminuria (チ) 【チアノーゼ】*cyanosis [medo.jp]

• Fracture

  TFCC and DRUJ injuries are part of the common pattern of injuries we see with distal radius fractures. [ncbi.nlm.nih.gov]

  Skull fractures and crushing injuries Vertebral and thoracic fractures Dislocations Traumatic myositis ossificans Localized subperiosteal thickenings Skeletal injuries by weapons Decapitation Strangulation Amputation: the skeletal evidence Amputation [corp.credoreference.com]

  /*fracture 【骨粗鬆症】【骨多孔症】*osteoporosis 【骨端炎】*epiphysitis 【骨端骨折】*epiphyseal fracture 【骨端症】*apophysitis 【骨痛】*bone pain *ostalgia *osteodynia 【骨頭下骨折】*subcapital fracture 【骨内膜腫】*endosteoma 【骨軟化症】*osteomalacia 【骨軟骨腫】*osteochondroma 【骨肉腫】*osteosarcoma *osteogenic [medo.jp]

  […] with suspected craniosynostosis or skull fracture. [ihop-net.org]

  In two patients, ulnar fractures occurred as a result of a fall; in one of these patients, fragment apposition was required. Conclusions. Clinicoroentgenological manifestations of CRUS determine the treatment options. [journals.eco-vector.com]

• Arthritis

  Juvenile chronic arthritis Ankylosing spondylitis (AS) Psoriatic arthritis Reiter's syndrome (reactive arthritis) Enteropathic arthropathies Traumatic arthritis Nonspecific septic arthritis Neurotrophic arthropathy Gout Definition and etiology Ochronosis [corp.credoreference.com]

  Marked ulnar deviation at the metacarpophalangeal joints, suggesting rheumatoid arthritis, can be due to repeated attacks of rheumatic fever and is known as Jaccoud's or post-rheumatic fever arthritis. [arthritisresearch.us]

  As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. Still’s disease was named after an English doctor named George Still, who described the condition in … Previous 1 2 Next Last [checkrare.com]

  Prevalence_of_rare_diseases_by_alphabetical_list.pdf 54 ORPHA Number Disease or Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases or families 3005 Pyle disease 30 Cases 48104 Pyoderma gangrenosum 0.74 I 69126 Pyogenic arthritis-pyoderma [azkurs.org]

  *suppurative arthritis 【化膿性汗腺炎】*hidradenitis suppurativa[L] 【化膿性筋炎】*pyomyositis 【化膿性口内炎】*suppurative stomatitis *pyostomatis 【化膿性骨髄炎】*suppurative osteomylitis 【化膿性子宮炎】*pyometritis 【化膿性心膜炎】【化膿性心嚢炎】*pyopericarditis 【化膿性髄膜炎】*purulent meningitis 【化膿性脊椎炎】 [medo.jp]

• Osteopenia

  Galloway-Mowat syndrome Geleophysic dysplasia Genetic syndrome with limb reduction defects Genitopatellar syndrome Genochondromatosis type 1 Genochondromatosis type 2 Geroderma osteodysplastica Ghosal hematodiaphyseal dysplasia Global developmental delay-osteopenia-ectodermal [se-atlas.de]

  Osteopenia, flexion contractures, and hip dysplasia may be present. Dilatation of the renal collecting system with increased echogenicity have been reported. [disorders.eyes.arizona.edu]

  […] atrophic scar Premature birth following premature rupture of fetal membranes Membranous ventricular septal aneurysm Subcutaneous spheroids Hyperextensibility of the knee Bifid scrotum Preaxial polydactyly Sparse hair Tethered cord Abnormality of the pinna Osteopenia [mendelian.co]

  […] fibrous osteoma 【骨幹炎】*diaphysitis 【骨関節炎】*osteoarthritis 【骨幹端炎】*metaphysitis 【骨芽細胞腫】*osteoblastoma 【骨棘症】【骨増殖症】*osteophytosis 【骨巨細胞腫】*giant cell tumor of bone 【骨形成不全症】*osteogenesis imperfecta[L] *dysostosis [異骨症] 【骨欠損】*bone defect/*bony defect 【骨減少症】【骨希薄】*osteopenia [medo.jp]

• Joint Dislocation

  dislocation Absent radius Short umbilical cord Small placenta Strabismus Joint stiffness Aplasia/Hypoplasia of the eyebrow Telecanthus Kyphosis Pulmonary hypoplasia Renal agenesis Ambiguous genitalia Blepharophimosis Skeletal muscle atrophy Hydrocephalus [mendelian.co]

  bilateral Congenital elbow dislocation, unilateral Congenital genu flexum Congenital genu recurvatum Congenital heart defect-round face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation [se-atlas.de]

• Decrease in Height

  […] synostosis Fused forearm bones 0002974 Scoliosis Abnormal curving of the spine 0002650 Short stature Decreased body height Small stature [ more ] 0004322 Synophrys Monobrow Unibrow [ more ] 0000664 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows [rarediseases.info.nih.gov]

• Erythema

  Figure 10-15: (Plate 32) Tuft erythema. Erythema of fingertips due to small right-to-left shunt from AV canal defect. [arthritisresearch.us]

  […] stature that resolves with puberty, widow's peak Bloom syndrome Autosomal recessive chromosomal instability caused by mutation in BLM Short stature with mild microcephaly, variably impaired intellectual ability Café au lait spots; facial telangiectasia erythema [aafp.org]

  […] multiforme exudativum[L] 【多形滲出性紅斑様薬疹】*erythema multiforme exudativum-like drug eruption 【多形性紅斑】*erythema multiforme[L] 【多形性腺腫】*pleomorphic adenoma 【多形性肉腫】【多形型肉腫】*pleomorphic sarcoma 【多形皮膚萎縮症】*poikiloderma 【多血球症】*polyglobulism 【多血症】*polycythemia ^＝赤血球増加症 [medo.jp]

• Skin Rash

  An infant with craniosynostosis and other congenital defects developed a progressive skin rash from the age of 1 month. Paper-6590603. [ihop-net.org]

  […] eruption *skin rash 【皮膚炎】*dermatitis 【皮膚関節炎】*dermatoarthritis 【皮膚乾燥症】*dry skin *xeroderma/*xerodermia *xerosis cutis[L] (＝乾皮症、乾燥皮膚) 【皮膚癌】*skin cancer 【皮膚筋炎】*dermatomyositis 【皮膚硬化症】*scleroderma (＝強皮症) 【皮膚疾患】【皮膚病】*dermopathy *skin disease 【皮膚症】*dermatosis [medo.jp]

• Seizure

  Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016 ). [mendelian.co]

  Seizure medications may be indicated and some patients can benefit from hearing aids. Severe joint disease may require replacement. [disorders.eyes.arizona.edu]

  […] or families 3005 Pyle disease 30 Cases 48104 Pyoderma gangrenosum 0.74 I 69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 34 Cases 183713 Pyogenic bacterial infections due to MyD88 deficiency 24 Cases 79096 Pyridoxal phosphate- responsive seizures [azkurs.org]

  TSC1 and TSC2 AD clinical features- Skin: hypomelanotic macules, facial angiofibromas, shagreen patch, CNS: subependymal glial nodules, cortical tubers, giant cell astrocytomas, seizures, Renal: angiomyolipomas, epithelial cysts, Heart: cardiac rhabdomyoma [quizlet.com]

  […] and developmental anomalies > 4p- syndrome MIM.194190 Wednesday 1 October 2003 Wolf-Hirschhorn syndrome (MIM.194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures [humpath.com]

• Phenylketonuria

  […] diathesis, cryptorchidism, downward-slanting palpebral fissures, hypertrophic cardiomyopathy, keratoconus, low posterior hairline, pectus excavatum, protruding upper lip, pulmonary stenosis, webbed neck, wide mouth Phenylalanine embryopathy Maternal phenylketonuria [aafp.org]

Clinical Testing and Workup Specialized x-ray studies will confirm the presence and/or extent of certain observed craniofacial abnormalities. [rarediseases.org]

Differential Diagnosis The differential diagnosis for FASD includes a variety of chromosomal abnormalities, exposure to other teratogens, and behavioral and psychiatric diagnoses ( Table 4 ). 2, 22 – 28 If the diagnosis is uncertain, the workup should [aafp.org]

• Hypoglycemia

  Página 309 - Increased insulin-like growth factor II production and consequent suppression of growth hormone secretion: a dual mechanism for tumorinduced hypoglycemia, J. ‎ Página 160 - In: Wilson JD. Foster DW. eds. [books.google.es]

  Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016 ). [mendelian.co]

  Mental development may be adequate as long as damage to the brain tissue due to hypoglycemia can be avoided (the tendency to hypoglycemia can continue into the first years of life). Hypertrophy of the viscera regresses in the course of development. [radiologykey.com]

  Episodic hypoglycemia has been documented. The pituitary adenohypophysis appears atrophied on MRI. Neurosensory hearing loss has been diagnosed in the first two years of life. [disorders.eyes.arizona.edu]

  […] arachnoid cyst 【クリスマス病】*christmas disease 【クリプトコッカス髄膜炎】*cryptococcal meningitis 【クロム親和芽細胞腫】*pheochromoblastoma 【クロム親和細胞腫】*pheochromocytoma 【クロム中毒】*chromate intoxication (空) 【空回腸炎】*jejunoileitis 【空腸炎】*jejunitis 【空洞状脊髄脱出】*syringomyelocele 【空腹低血糖[症]】*fasting hypoglycemia [medo.jp]

This will hopefully be the initiation of a series of books on conservative scoliosis treatment and a valuable library for SOSORT. [books.google.com]

See also the following treatment articles: Treatments for Microcephaly Treatments for Short Stature Treatments for Scoliosis Causes See also causal information: Causes of Radioulnar synostosis Causes of Microcephaly Causes of Short Stature Causes of [familydiagnosis.com]

It is reasonable to start CRUS surgical treatment at the age of 3 years. 5. All deformity variants are indications for surgical treatment, considering that treatment technique selection is determined by the degree of its severity. 6. [journals.eco-vector.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Every entry is standardized for quick look-up in the office or clinic, and features description, etiology, risk factors, clinical features, natural history, diagnosis, red flags, treatment, prognosis, helpful hints and suggested readings. [books.google.com]

Prognosis: There is an increased neonatal mortality due to respiratory complications resulting from short ribs (30–50% of affected infants). In addition, the prognosis also depends on the associated cardiac anomaly. [radiologykey.com]

In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]

Prognosis Prognosis varies with the degree of impairment. [aafp.org]

Prognosis The impact of alcohol on the fetus depends on the timing (e.g., first trimester vs. later trimester), pattern (e.g., daily vs. binge), and magnitude (e.g., chronic vs. occasional) of use. [ Chudley: 2005 ] Facial dysmorphology and internal organ [medicalhomeportal.org]

Every entry is standardized for quick look-up in the office or clinic, and features description, etiology, risk factors, clinical features, natural history, diagnosis, red flags, treatment, prognosis, helpful hints and suggested readings. [books.google.com]

The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005 Mar;21(3):188-95. PMID: 15734578 Fernandes BJ, Gardner HA, Bedard YC. The 4p- syndrome—an autopsy study. Hum Pathol. 1980 Nov;11(6):683-5. PMID: 7450742 [humpath.com]

The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation. [dysnet.org]

Etiology: three extra X chromosomes are responsible for the 49,XXXXY syndrome. 2. Mechanism a. All four X chromosomes are of maternal in origin. b. [link.springer.com]

Rheumatoid arthritis Juvenile chronic arthritis Ankylosing spondylitis (AS) Psoriatic arthritis Reiter's syndrome (reactive arthritis) Enteropathic arthropathies Traumatic arthritis Nonspecific septic arthritis Neurotrophic arthropathy Gout Definition and etiology [corp.credoreference.com]

Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 73 Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 59 Giuffre-Tsukahara Syndrome 57 Giuffré-Tsukahara Syndrome 59 Characteristics: Orphanet epidemiological [malacards.org]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

[…] to congenital metabolic disorders Mucopolysaccharidoses Mucolipidoses Lipid storage diseases Part Thirteen: Neoplastic conditions General principles of neoplasia Definition Characteristics of benign and malignant tumors Function of neoplastic cells Epidemiology [corp.credoreference.com]

This chapter reviews various aspects of Klinefelter syndrome, including epidemiology, cytogenetics, molecular genetics, clinical manifestations, and management. [glowm.com]

EPIDEMIOLOGY Noonan syndrome is characterized by marked variable expressivity, which makes it difficult to identify mildly affected individuals. The overall incidence is believed to be between 1/1000 and 1/2500 live births. [flipper.diff.org]

Loss of genetic material in this region of chromosome 7p has been implicated in the pathophysiology of craniosynostosis and cephalopolysyndactyly syndromes. Paper-8648967. [ihop-net.org]

In this volume there are chapters reporting on various aspects of the current state of the following topics: IS aetiology, recent trends on scoliosis research, genetics, prevention - school screening, various methods of physiotherapy, various types of [books.google.com]

Reprinted with permission from FAS Diagnostic & Prevention Network. [aafp.org]

FAS Diagnostic and Prevention Network provides more details. [medicalhomeportal.org]

It is considered one of the commonest preventable causes of intellectual impairment. The estimated incidence in the western world is at around 0.2-1% of live births 6,7 for FAS and ~10% for FASD 7. [radiopaedia.org]