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Williams syndrome(WBS)

MedGen UID:
59799
Concept ID:
C0175702
Congenital Abnormality
Synonyms: Beuren syndrome; CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB; Elfin Facies Syndrome; Elfin facies with hypercalcemia; Hypercalcemia-Supravalvar Aortic Stenosis; Infantile hypercalcemia; Supravalvar aortic stenosis syndrome; WBS; Williams-Beuren syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Williams syndrome (63247009); William syndrome (63247009)
 
Genes: MLXIPL; ELN
OMIM®: 194050
Orphanet: ORPHA904

Disease characteristics

Excerpted from the GeneReview: Williams Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to failure to thrive in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Colleen A Morris   view full author information

Additional descriptions

From OMIM
Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management. See also the distal chromosome 7q11.23 deletion syndrome (613729), which occurs between the WBS region and the MAGI2 gene (606382).  http://www.omim.org/entry/194050
From GHR
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt. A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.  http://ghr.nlm.nih.gov/condition/williams-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Obesity
MedGen UID:
368429
Concept ID:
C1963185
Finding
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Renal hypoplasia
MedGen UID:
57623
Concept ID:
C0156247
Finding
Vesicoureteral reflux
MedGen UID:
332010
Concept ID:
C1835578
Finding
Renal hypoplasia/aplasia
MedGen UID:
387822
Concept ID:
C1857453
Finding
Recurrent urinary tract infections
MedGen UID:
500878
Concept ID:
CN000011
Finding
Repeated infections of the urinary tract.
Bladder diverticulum
MedGen UID:
504301
Concept ID:
CN000016
Finding
Diverticulum (sac or pouch) in the wall of the urinary bladder.
Functional abnormality of male internal genitalia
MedGen UID:
427387
Concept ID:
CN000026
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Micropenis
MedGen UID:
504321
Concept ID:
CN000054
Finding
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Renal duplication
MedGen UID:
504331
Concept ID:
CN000075
Finding
A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Polycystic kidney dysplasia
MedGen UID:
427793
Concept ID:
CN000111
Finding
The presence of multiple cysts in both kidneys.
Nephrocalcinosis
MedGen UID:
504348
Concept ID:
CN000117
Finding
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Pelvic kidney
MedGen UID:
504352
Concept ID:
CN000121
Finding
A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
Polycystic ovaries
MedGen UID:
504365
Concept ID:
CN000143
Finding
Nephrolithiasis
MedGen UID:
504597
Concept ID:
CN000736
Finding
The presence of calculi (stones) in the kidneys.
Abnormality of the urethra
MedGen UID:
446378
Concept ID:
CN000743
Finding
An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.
Enuresis
MedGen UID:
504606
Concept ID:
CN000752
Finding
Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
Renal artery stenosis
MedGen UID:
505007
Concept ID:
CN001737
Finding
The presence of stenosis of the renal artery.
Hypercalciuria
MedGen UID:
505127
Concept ID:
CN001948
Finding
Urethral stenosis
MedGen UID:
506243
Concept ID:
CN007620
Finding
Abnormal narrowing of the urethra.
Hypoplasia of penis
MedGen UID:
506256
Concept ID:
CN007685
Finding
Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the kidney.
Renovascular hypertension
MedGen UID:
506544
Concept ID:
CN117707
Finding
The presence of hypertension related to stenosis of the renal artery.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Narrow forehead
MedGen UID:
326408
Concept ID:
C1839127
Finding
Pointed chin
MedGen UID:
335820
Concept ID:
C1842873
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Microdontia
MedGen UID:
342456
Concept ID:
C1850267
Finding
Coarse facial features
MedGen UID:
381459
Concept ID:
C1854600
Finding
Broad forehead
MedGen UID:
383676
Concept ID:
C1855408
Finding
Open mouth
MedGen UID:
346627
Concept ID:
C1857628
Finding
Periorbital fullness
MedGen UID:
341911
Concept ID:
C1858036
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Full cheeks
MedGen UID:
355661
Concept ID:
C1866231
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Wide mouth
MedGen UID:
504368
Concept ID:
CN000150
Finding
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Abnormality of the tongue
MedGen UID:
446339
Concept ID:
CN000153
Finding
Any abnormality of the tongue.
Thick lower lip vermilion
MedGen UID:
504381
Concept ID:
CN000174
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Gingival overgrowth
MedGen UID:
504394
Concept ID:
CN000205
Finding
Hyperplasia of the gingiva (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Everted lower lip vermilion
MedGen UID:
504402
Concept ID:
CN000224
Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Abnormality of the neck
MedGen UID:
424994
Concept ID:
CN000433
Finding
An abnormality of the neck.
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Hypotelorism
MedGen UID:
504517
Concept ID:
CN000563
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Hypodontia
MedGen UID:
504548
Concept ID:
CN000629
Finding
A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Elfin facies
MedGen UID:
505636
Concept ID:
CN003923
Finding
This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.
Abnormal nasal morphology
MedGen UID:
425310
Concept ID:
CN004530
Finding
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Medial flaring of the eyebrow
MedGen UID:
447327
Concept ID:
CN009573
Finding
An abnormal distribution of eyebrow hair growth in the medial direction.
Periorbital edema
MedGen UID:
506479
Concept ID:
CN117432
Finding
Edema affecting the region situated around the orbit of the eye.
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Retinal arteriolar tortuosity
MedGen UID:
334424
Concept ID:
C1843517
Finding
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Megalocornea
MedGen UID:
504461
Concept ID:
CN000453
Finding
An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.
Abnormality of refraction
MedGen UID:
427809
Concept ID:
CN000505
Finding
An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
Hypermetropia
MedGen UID:
504484
Concept ID:
CN000506
Finding
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Hypotelorism
MedGen UID:
504517
Concept ID:
CN000563
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Posterior embryotoxon
MedGen UID:
504530
Concept ID:
CN000589
Finding
A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
Lacrimation abnormality
MedGen UID:
425004
Concept ID:
CN000594
Finding
Abnormality of tear production.
Blue irides
MedGen UID:
500890
Concept ID:
CN000597
Finding
A markedly blue coloration of the iris.
Flat cornea
MedGen UID:
428730
Concept ID:
CN006770
Finding
Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.
Abnormality of the retinal vasculature
MedGen UID:
446889
Concept ID:
CN007073
Finding
An arterial or venous retinal vascular anomaly.
Aplasia/Hypoplasia of the iris
MedGen UID:
429187
Concept ID:
CN007080
Finding
Absence or underdevelopment of the iris.
Recurrent otitis media
MedGen UID:
332967
Concept ID:
C1837887
Finding
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Macrotia
MedGen UID:
349900
Concept ID:
C1860838
Finding
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Large earlobe
MedGen UID:
506310
Concept ID:
CN008608
Finding
Increased volume of the earlobe, that is, abnormally prominent ear lobules.
Hyperacusis
MedGen UID:
429626
Concept ID:
CN009606
Finding
Over-sensitivity to certain frequency ranges of sound.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Poor coordination
MedGen UID:
107874
Concept ID:
C0563243
Finding
Obsessive-compulsive trait
MedGen UID:
322417
Concept ID:
C1834433
Finding
Gait imbalance
MedGen UID:
373028
Concept ID:
C1836150
Finding
Gait disturbance
MedGen UID:
333349
Concept ID:
C1839568
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Arnold-Chiari malformation
MedGen UID:
375495
Concept ID:
C1844744
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Stroke
MedGen UID:
340407
Concept ID:
C1849743
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Arnold-Chiari type I malformation
MedGen UID:
341782
Concept ID:
C1857474
Finding
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Anxiety
MedGen UID:
409544
Concept ID:
C1963064
Finding
Insomnia
MedGen UID:
409589
Concept ID:
C1963237
Finding
Tremor
MedGen UID:
776582
Concept ID:
C2364114
Finding
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Obsessive-compulsive behavior
MedGen UID:
504572
Concept ID:
CN000679
Finding
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Cerebellar hypoplasia
MedGen UID:
504799
Concept ID:
CN001210
Finding
Underdevelopment of the cerebellum.
Abnormality of extrapyramidal motor function
MedGen UID:
505080
Concept ID:
CN001873
Finding
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Cerebral cortical atrophy
MedGen UID:
505113
Concept ID:
CN001920
Finding
Atrophy of the cortex of the cerebrum.
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Phonophobia
MedGen UID:
505146
Concept ID:
CN001979
Finding
An abnormally heightened sensitivity to loud sounds.
Sleep disturbance
MedGen UID:
505212
Concept ID:
CN002143
Finding
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Developmental regression
MedGen UID:
505217
Concept ID:
CN002158
Finding
Loss of developmental skills, as manifested by loss of developmental milestones.
Cerebral ischemia
MedGen UID:
505309
Concept ID:
CN002398
Finding
Spina bifida occulta
MedGen UID:
505509
Concept ID:
CN002976
Finding
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Involuntary movements
MedGen UID:
428446
Concept ID:
CN003806
Finding
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the corpus callosum.
Abnormality of the diencephalon
MedGen UID:
429601
Concept ID:
CN009488
Finding
An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.
Impaired visuospatial constructive cognition
MedGen UID:
451125
Concept ID:
CN116528
Finding
Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
Hypothyroidism
MedGen UID:
413085
Concept ID:
C2750951
Finding
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Early onset of sexual maturation
MedGen UID:
430072
Concept ID:
CN009620
Finding
An early onset of puberty, in this case early does not refer to precocious.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Adducted thumb
MedGen UID:
321896
Concept ID:
C1832151
Finding
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Hallux valgus
MedGen UID:
338251
Concept ID:
C1847526
Finding
Vertebral segmentation defect
MedGen UID:
338574
Concept ID:
C1848939
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Arthralgia
MedGen UID:
409545
Concept ID:
C1963066
Finding
Osteopenia
MedGen UID:
409692
Concept ID:
C1968854
Finding
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Abnormality of pelvic girdle bone morphology
MedGen UID:
428305
Concept ID:
CN002405
Finding
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Kyphoscoliosis
MedGen UID:
425109
Concept ID:
CN002496
Finding
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Genu valgum
MedGen UID:
505373
Concept ID:
CN002582
Finding
The legs angle inward, such that the knees are close together and the ankles far apart.
Radioulnar synostosis
MedGen UID:
505426
Concept ID:
CN002691
Finding
An abnormal osseous union (fusion) between the radius and the ulna.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Abnormality of the ankles
MedGen UID:
425120
Concept ID:
CN002737
Finding
Abnormality of the shoulder
MedGen UID:
446468
Concept ID:
CN002749
Finding
An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
Spina bifida occulta
MedGen UID:
505509
Concept ID:
CN002976
Finding
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Hyperlordosis
MedGen UID:
505513
Concept ID:
CN002983
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Abnormal form of the vertebral bodies
MedGen UID:
428336
Concept ID:
CN002988
Finding
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Increased bone mineral density
MedGen UID:
451275
Concept ID:
CN116733
Finding
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Down-sloping shoulders
MedGen UID:
452075
Concept ID:
CN117762
Finding
Low set, steeply sloping shoulders.
Increased nuchal translucency
MedGen UID:
451183
Concept ID:
CN116614
Finding
The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Malabsorption
MedGen UID:
368423
Concept ID:
C1963165
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Biliary tract abnormality
MedGen UID:
504714
Concept ID:
CN001013
Finding
An abnormality of the biliary tree.
Portal hypertension
MedGen UID:
504834
Concept ID:
CN001290
Finding
Increased pressure in the portal vein.
Nausea and vomiting
MedGen UID:
505054
Concept ID:
CN001825
Finding
Gastroesophageal reflux
MedGen UID:
505057
Concept ID:
CN001828
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Rectal prolapse
MedGen UID:
505063
Concept ID:
CN001840
Finding
Protrusion of the rectal mucous membrane through the anus.
Colonic diverticulosis
MedGen UID:
425093
Concept ID:
CN002044
Finding
The presence of multiple diverticula of the colon.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Celiac disease
MedGen UID:
505292
Concept ID:
CN002370
Finding
Abnormality of the gastric mucosa
MedGen UID:
428060
Concept ID:
CN003798
Finding
An abnormality of the gastric mucous membrane.
Bowel diverticulosis
MedGen UID:
505773
Concept ID:
CN004627
Finding
The presence of multiple diverticula of the intestine.
Chronic constipation
MedGen UID:
760204
Concept ID:
CN182133
Finding
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Premature graying of hair
MedGen UID:
75524
Concept ID:
C0263498
Disease or Syndrome
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Hypoplastic toenails
MedGen UID:
332409
Concept ID:
C1837279
Finding
Soft skin
MedGen UID:
336730
Concept ID:
C1844592
Finding
Prematurely aged appearance
MedGen UID:
346633
Concept ID:
C1857656
Finding
Cutis laxa
MedGen UID:
504669
Concept ID:
CN000911
Finding
Wrinkled, redundant, inelastic and sagging skin.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Small nail
MedGen UID:
504954
Concept ID:
CN001626
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Abnormal dermatoglyphics
MedGen UID:
446825
Concept ID:
CN006555
Finding
An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
Medial flaring of the eyebrow
MedGen UID:
447327
Concept ID:
CN009573
Finding
An abnormal distribution of eyebrow hair growth in the medial direction.
Abnormality of the voice
MedGen UID:
425062
Concept ID:
CN001464
Finding
Any abnormality of the voice.
Hoarse voice
MedGen UID:
504872
Concept ID:
CN001465
Finding
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
hypertrophy or enlargement of the heart.
Retinal arteriolar tortuosity
MedGen UID:
334424
Concept ID:
C1843517
Finding
Stroke
MedGen UID:
340407
Concept ID:
C1849743
Finding
Peripheral pulmonary artery stenosis
MedGen UID:
340918
Concept ID:
C1855624
Finding
Ventricular septal defect
MedGen UID:
347827
Concept ID:
C1859213
Finding
Sudden cardiac death
MedGen UID:
369872
Concept ID:
C1968862
Finding
Portal hypertension
MedGen UID:
504834
Concept ID:
CN001290
Finding
Increased pressure in the portal vein.
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Abnormality of the mitral valve
MedGen UID:
428274
Concept ID:
CN001486
Finding
An abnormality of the mitral valve.
Mitral valve prolapse
MedGen UID:
504880
Concept ID:
CN001487
Finding
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Tetralogy of Fallot
MedGen UID:
504882
Concept ID:
CN001489
Finding
A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Pulmonic stenosis
MedGen UID:
504885
Concept ID:
CN001495
Finding
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Abnormality of the aortic valve
MedGen UID:
425065
Concept ID:
CN001499
Finding
Any abnormality of the aortic valve.
Bicuspid aortic valve
MedGen UID:
504889
Concept ID:
CN001500
Finding
The presence of an aortic valve with two instead of the normal three cusps (flaps).
Mitral regurgitation
MedGen UID:
504894
Concept ID:
CN001505
Finding
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Coronary artery disease
MedGen UID:
504904
Concept ID:
CN001526
Finding
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Renal artery stenosis
MedGen UID:
505007
Concept ID:
CN001737
Finding
The presence of stenosis of the renal artery.
Overriding aorta
MedGen UID:
505300
Concept ID:
CN002384
Finding
An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.
Cerebral ischemia
MedGen UID:
505309
Concept ID:
CN002398
Finding
Abnormality of the endocardium
MedGen UID:
446580
Concept ID:
CN003807
Finding
An abnormality of the endocardium.
Supravalvular aortic stenosis
MedGen UID:
505614
Concept ID:
CN003880
Finding
A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.
Abnormality of the pulmonary artery
MedGen UID:
428461
Concept ID:
CN003909
Finding
An abnormality of the pulmonary artery.
Myxomatous mitral valve degeneration
MedGen UID:
428106
Concept ID:
CN004213
Finding
Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.
Coronary artery stenosis
MedGen UID:
505756
Concept ID:
CN004558
Finding
Abnormality of the carotid arteries
MedGen UID:
428518
Concept ID:
CN004744
Finding
Abnormality of the retinal vasculature
MedGen UID:
446889
Concept ID:
CN007073
Finding
An arterial or venous retinal vascular anomaly.
Renovascular hypertension
MedGen UID:
506544
Concept ID:
CN117707
Finding
The presence of hypertension related to stenosis of the renal artery.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
Abnormally high level of calcium in the blood.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Glucose intolerance
MedGen UID:
510705
Concept ID:
C0159069
Finding
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hypercalciuria
MedGen UID:
505127
Concept ID:
CN001948
Finding
Abnormality of lipid metabolism
MedGen UID:
428327
Concept ID:
CN002813
Finding
An abnormality in the of lipid metabolism.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Increased nuchal translucency
MedGen UID:
451183
Concept ID:
CN116614
Finding
The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).
Periorbital edema
MedGen UID:
506479
Concept ID:
CN117432
Finding
Edema affecting the region situated around the orbit of the eye.
Peripheral pulmonary artery stenosis
MedGen UID:
340918
Concept ID:
C1855624
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Vocal cord paralysis
MedGen UID:
504870
Concept ID:
CN001461
Finding
A loss of the ability to move the vocal folds.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Abnormality of the pulmonary artery
MedGen UID:
428461
Concept ID:
CN003909
Finding
An abnormality of the pulmonary artery.
Recurrent otitis media
MedGen UID:
332967
Concept ID:
C1837887
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Recurrent urinary tract infections
MedGen UID:
500878
Concept ID:
CN000011
Finding
Repeated infections of the urinary tract.
Celiac disease
MedGen UID:
505292
Concept ID:
CN002370
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Adducted thumb
MedGen UID:
321896
Concept ID:
C1832151
Finding
Hallux valgus
MedGen UID:
338251
Concept ID:
C1847526
Finding
Pes planus
MedGen UID:
427894
Concept ID:
CN001603
Finding
A foot where the plantar arch is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Genu valgum
MedGen UID:
505373
Concept ID:
CN002582
Finding
The legs angle inward, such that the knees are close together and the ankles far apart.
Radioulnar synostosis
MedGen UID:
505426
Concept ID:
CN002691
Finding
An abnormal osseous union (fusion) between the radius and the ulna.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Abnormality of the ankles
MedGen UID:
425120
Concept ID:
CN002737
Finding
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGWilliams syndrome

Professional guidelines

PubMed

Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA, del Nido P, Fasules JW, Graham TP Jr, Hijazi ZM, Hunt SA, King ME, Landzberg MJ, Miner PD, Radford MJ, Walsh EP, Webb GD, Smith SC Jr, Jacobs AK, Adams CD, Anderson JL, Antman EM, Buller CE, Creager MA, Ettinger SM, Halperin JL, Hunt SA, Krumholz HM, Kushner FG, Lytle BW, Nishimura RA, Page RL, Riegel B, Tarkington LG, Yancy CW; American College of Cardiology; American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease); American Society of Echocardiography; Heart Rhythm Society; International Society for Adult Congenital Heart Disease; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons
J Am Coll Cardiol 2008 Dec 2;52(23):e143-263. doi: 10.1016/j.jacc.2008.10.001. PMID: 19038677

Recent clinical studies

Etiology

Olsen M, Fahy CJ, Costi DA, Kelly AJ, Burgoyne LL
Anaesth Intensive Care 2014 Sep;42(5):619-24. PMID: 25233176
Kozel BA, Danback JR, Waxler JL, Knutsen RH, de Las Fuentes L, Reusz GS, Kis E, Bhatt AB, Pober BR
Hypertension 2014 Jan;63(1):74-9. Epub 2013 Oct 14 doi: 10.1161/HYPERTENSIONAHA.113.02087. [Epub ahead of print] PMID: 24126171Free PMC Article
Wint DP, Butman JA, Masdeu JC, Meyer-Lindenberg A, Mervis CB, Sarpal D, Morris CA, Berman KF
AJNR Am J Neuroradiol 2014 Jan;35(1):90-4. Epub 2013 Jul 18 doi: 10.3174/ajnr.A3641. [Epub ahead of print] PMID: 23868161
Van Herwegen J, Dimitriou D, Rundblad G
J Commun Disord 2013 Sep-Dec;46(5-6):440-8. Epub 2013 Nov 6 doi: 10.1016/j.jcomdis.2013.10.002. [Epub ahead of print] PMID: 24239484
Barozzi S, Soi D, Spreafico E, Borghi A, Comiotto E, Gagliardi C, Selicorni A, Forti S, Cesarani A, Brambilla D
Eur J Med Genet 2013 Sep;56(9):490-6. Epub 2013 Jul 22 doi: 10.1016/j.ejmg.2013.07.001. [Epub ahead of print] PMID: 23886711

Diagnosis

Vanhapiha N, Knuutila S, Vettenranta K, Lohi O
Pediatr Blood Cancer 2014 Oct;61(10):1877-9. Epub 2014 Apr 19 doi: 10.1002/pbc.25055. [Epub ahead of print] PMID: 24753445
Bódizs R, Gombos F, Szocs K, Réthelyi JM, Gerván P, Kovács I
Ideggyogy Sz 2014 Jan 30;67(1-2):59-68. PMID: 24654449
Wint DP, Butman JA, Masdeu JC, Meyer-Lindenberg A, Mervis CB, Sarpal D, Morris CA, Berman KF
AJNR Am J Neuroradiol 2014 Jan;35(1):90-4. Epub 2013 Jul 18 doi: 10.3174/ajnr.A3641. [Epub ahead of print] PMID: 23868161
Van Herwegen J, Dimitriou D, Rundblad G
J Commun Disord 2013 Sep-Dec;46(5-6):440-8. Epub 2013 Nov 6 doi: 10.1016/j.jcomdis.2013.10.002. [Epub ahead of print] PMID: 24239484
Barozzi S, Soi D, Spreafico E, Borghi A, Comiotto E, Gagliardi C, Selicorni A, Forti S, Cesarani A, Brambilla D
Eur J Med Genet 2013 Sep;56(9):490-6. Epub 2013 Jul 22 doi: 10.1016/j.ejmg.2013.07.001. [Epub ahead of print] PMID: 23886711

Therapy

Olsen M, Fahy CJ, Costi DA, Kelly AJ, Burgoyne LL
Anaesth Intensive Care 2014 Sep;42(5):619-24. PMID: 25233176
Kozel BA, Danback JR, Waxler JL, Knutsen RH, de Las Fuentes L, Reusz GS, Kis E, Bhatt AB, Pober BR
Hypertension 2014 Jan;63(1):74-9. Epub 2013 Oct 14 doi: 10.1161/HYPERTENSIONAHA.113.02087. [Epub ahead of print] PMID: 24126171Free PMC Article
Martens MA, Seyfer DL, Andridge RR, Foster JE, McClure KE, Coury DL
Res Dev Disabil 2013 May;34(5):1700-9. Epub 2013 Mar 15 doi: 10.1016/j.ridd.2013.02.015. [Epub ahead of print] PMID: 23500164
Hoffmann A, Martens MA, Fox R, Rabidoux P, Andridge R
Am J Speech Lang Pathol 2013 May;22(2):198-204. Epub 2012 Nov 26 doi: 10.1044/1058-0360(2012/11-0131). [Epub ahead of print] PMID: 23184135
Martens MA, Seyfer DL, Andridge RR, Foster JE, Chowdhury M, McClure KE, Coury DL
Res Dev Disabil 2012 Nov-Dec;33(6):2106-21. Epub 2012 Jul 7 doi: 10.1016/j.ridd.2012.06.006. [Epub ahead of print] PMID: 22776821

Prognosis

Van Herwegen J, Dimitriou D, Rundblad G
J Commun Disord 2013 Sep-Dec;46(5-6):440-8. Epub 2013 Nov 6 doi: 10.1016/j.jcomdis.2013.10.002. [Epub ahead of print] PMID: 24239484
Palomares M, Shannon MT
Brain Cogn 2013 Dec;83(3):262-70. Epub 2013 Oct 2 doi: 10.1016/j.bandc.2013.09.003. [Epub ahead of print] PMID: 24095844
Barozzi S, Soi D, Spreafico E, Borghi A, Comiotto E, Gagliardi C, Selicorni A, Forti S, Cesarani A, Brambilla D
Eur J Med Genet 2013 Sep;56(9):490-6. Epub 2013 Jul 22 doi: 10.1016/j.ejmg.2013.07.001. [Epub ahead of print] PMID: 23886711
Martens MA, Seyfer DL, Andridge RR, Foster JE, McClure KE, Coury DL
Res Dev Disabil 2013 May;34(5):1700-9. Epub 2013 Mar 15 doi: 10.1016/j.ridd.2013.02.015. [Epub ahead of print] PMID: 23500164
Lense M, Dykens E
J Intellect Disabil Res 2013 Sep;57(9):850-60. Epub 2012 Sep 14 doi: 10.1111/j.1365-2788.2012.01611.x. [Epub ahead of print] PMID: 22974236

Clinical prediction guides

Kozel BA, Danback JR, Waxler JL, Knutsen RH, de Las Fuentes L, Reusz GS, Kis E, Bhatt AB, Pober BR
Hypertension 2014 Jan;63(1):74-9. Epub 2013 Oct 14 doi: 10.1161/HYPERTENSIONAHA.113.02087. [Epub ahead of print] PMID: 24126171Free PMC Article
Van Herwegen J, Dimitriou D, Rundblad G
J Commun Disord 2013 Sep-Dec;46(5-6):440-8. Epub 2013 Nov 6 doi: 10.1016/j.jcomdis.2013.10.002. [Epub ahead of print] PMID: 24239484
Nordstrøm M, Hansen BH, Paus B, Kolset SO
Res Dev Disabil 2013 Dec;34(12):4395-403. Epub 2013 Oct 18 doi: 10.1016/j.ridd.2013.09.021. [Epub ahead of print] PMID: 24139709
Axelsson EL, Hill CM, Sadeh A, Dimitriou D
Res Dev Disabil 2013 Nov;34(11):3988-96. Epub 2013 Sep 10 doi: 10.1016/j.ridd.2013.08.018. [Epub ahead of print] PMID: 24029809
Martens MA, Wilson SJ, Chen J, Wood AG, Reutens DC
Dev Psychopathol 2013 Feb;25(1):253-60. doi: 10.1017/S0954579412001009. PMID: 23398763

Recent systematic reviews

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