Format

Send to:

Choose Destination

Weaver syndrome(WVS)

MedGen UID:
120511
Concept ID:
C0265210
Disease or Syndrome
Synonyms: Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly; Weaver Smith syndrome; WVS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not genetically inherited
MedGen UID:
832438
Concept ID:
CN227390
Finding
Source: Orphanet
clinical entity without genetic inheritance.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Weaver syndrome (63119004)
 
Gene (location): EZH2 (7q36.1)
OMIM®: 277590
Orphanet: ORPHA3447

Disease characteristics

Excerpted from the GeneReview: EZH2-Related Overgrowth
EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 pathogenic variant have been identified because of a clinical suspicion of Weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with overgrowth who did not have a clinical diagnosis of Weaver syndrome. Thus, the extent of the phenotypic spectrum associated with a heterozygous EZH2 pathogenic variant is not yet known. Weaver syndrome is characterized by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency. [from GeneReviews]
Authors:
Katrina Tatton-Brown  |  Nazneen Rahman   view full author information

Additional descriptions

From NCBI curation
EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 mutation have been identified because of a clinical suspicion of Weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with overgrowth who did not have a clinical diagnosis of Weaver syndrome. Thus, the extent of the phenotypic spectrum associated with heterozygous EZH2 mutations is not yet known. Weaver syndrome is characterized by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy. Neuronal migration disorders have also been reported in a few individuals with EZH2-related overgrowth. Malignancies (including neuroblastoma and hematologic malignancies) may occur with increased frequently; current data are insufficient to draw conclusions.
From OMIM
Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (117550), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010). The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity. Sotos syndrome (117550), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (601573) on chromosome 5q35.  http://www.omim.org/entry/277590
From GHR
Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia).People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints. The contractures may particularly affect the fingers and toes, resulting in permanently bent digits (camptodactyly). Other features of this disorder can include abnormal curvature of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or increased (hypertonia); loose, saggy skin; and a soft-outpouching around the belly-button (umbilical hernia). Some affected individuals have abnormalities in the folds (gyri) of the brain, which can be seen by medical imaging; the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear.Researchers suggest that people with Weaver syndrome may have an increased risk of developing cancer, in particular a slightly increased risk of developing a tumor called neuroblastoma in early childhood, but the small number of affected individuals makes it difficult to determine the exact risk.  https://ghr.nlm.nih.gov/condition/weaver-syndrome

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hydrocele testis
MedGen UID:
318568
Concept ID:
C1720771
Congenital Abnormality
Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Disease or Syndrome
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Behavioral abnormality
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Slurred speech
MedGen UID:
65885
Concept ID:
C0234518
Finding
Abnormal coordination of muscles involved in speech.
Absent septum pellucidum
MedGen UID:
96561
Concept ID:
C0431371
Congenital Abnormality
Absence of the septum pellucidum.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Dilation of lateral ventricles
MedGen UID:
383904
Concept ID:
C1856409
Finding
Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Large hands
MedGen UID:
98097
Concept ID:
C0426870
Finding
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Overlapping toe
MedGen UID:
182531
Concept ID:
C0920299
Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
Prominent fingertip pads
MedGen UID:
322758
Concept ID:
C1835807
Finding
A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Limited knee extension
MedGen UID:
336755
Concept ID:
C1844690
Finding
Short fourth metatarsal
MedGen UID:
336358
Concept ID:
C1848514
Finding
Short fourth metatarsal bone.
Calcaneovalgus deformity
MedGen UID:
395489
Concept ID:
C1860450
Anatomical Abnormality
This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Flared humeral metaphysis
MedGen UID:
892657
Concept ID:
C4020912
Anatomical Abnormality
Flaring (increase of width with a splayed appearance) of the humeral metaphysis.
Flared femoral metaphysis
MedGen UID:
871197
Concept ID:
C4025674
Anatomical Abnormality
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel.
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). [pmid:16252026]
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Disease or Syndrome
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Abnormally low-pitched voice
MedGen UID:
869488
Concept ID:
C4023915
Anatomical Abnormality
An abnormally low-pitched voice.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Abnormally increased curvature of the thoracic portion of the spine.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
A congenital or acquired spinal deformity characterized by lateral curvature of the spine.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Accelerated skeletal maturation
MedGen UID:
154262
Concept ID:
C0545053
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Overlapping toe
MedGen UID:
182531
Concept ID:
C0920299
Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
Prominent fingertip pads
MedGen UID:
322758
Concept ID:
C1835807
Finding
A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Limited knee extension
MedGen UID:
336755
Concept ID:
C1844690
Finding
Short fourth metatarsal
MedGen UID:
336358
Concept ID:
C1848514
Finding
Short fourth metatarsal bone.
Calcaneovalgus deformity
MedGen UID:
395489
Concept ID:
C1860450
Anatomical Abnormality
This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Macrocephalus
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Flared humeral metaphysis
MedGen UID:
892657
Concept ID:
C4020912
Anatomical Abnormality
Flaring (increase of width with a splayed appearance) of the humeral metaphysis.
Dysharmonic bone age
MedGen UID:
866572
Concept ID:
C4020918
Pathologic Function
Different levels of maturation of different bones.
Flared femoral metaphysis
MedGen UID:
871197
Concept ID:
C4025674
Anatomical Abnormality
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel.
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). [pmid:16252026]
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Macrocephalus
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Dimple chin
MedGen UID:
1370532
Concept ID:
C4317152
Anatomical Abnormality
A persistent midline depression of the skin over the fat pad of the chin.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Cutis laxa
MedGen UID:
8206
Concept ID:
C0010495
Disease or Syndrome
A congenital or acquired disorder affecting the elastic fibers of the skin. It is characterized by loss of elasticity resulting in loosening and folding of the skin.
Thin nail
MedGen UID:
98073
Concept ID:
C0423823
Finding
Fine hair
MedGen UID:
98401
Concept ID:
C0423867
Finding
Hair that is fine or thin to the touch.
Prominent fingertip pads
MedGen UID:
322758
Concept ID:
C1835807
Finding
A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
Sparse hair
MedGen UID:
332942
Concept ID:
C1837770
Finding
Reduced density of hairs.
Deep-set nails
MedGen UID:
479383
Concept ID:
C3277753
Finding
Deeply placed nails.
Inversion of nipple
MedGen UID:
82844
Concept ID:
C0269269
Anatomical Abnormality
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWeaver syndrome
Follow this link to review classifications for Weaver syndrome in Orphanet.

Recent clinical studies

Etiology

Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
Polonis K, Blackburn PR, Urrutia RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN
Cold Spring Harb Mol Case Stud 2018 Aug;4(4) Epub 2018 Aug 1 doi: 10.1101/mcs.a002899. PMID: 29802153Free PMC Article
Basel-Vanagaite L
Am J Med Genet A 2010 Feb;152A(2):383-6. doi: 10.1002/ajmg.a.33244. PMID: 20101679
Coulter D, Powell CM, Gold S
J Pediatr Hematol Oncol 2008 Oct;30(10):758-60. doi: 10.1097/MPH.0b013e3181758974. PMID: 19011474
Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N
Am J Hum Genet 2003 Jan;72(1):132-43. Epub 2002 Dec 2 doi: 10.1086/345647. PMID: 12464997Free PMC Article

Diagnosis

Polonis K, Blackburn PR, Urrutia RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN
Cold Spring Harb Mol Case Stud 2018 Aug;4(4) Epub 2018 Aug 1 doi: 10.1101/mcs.a002899. PMID: 29802153Free PMC Article
Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R
J Hum Genet 2018 Apr;63(4):517-520. Epub 2018 Feb 6 doi: 10.1038/s10038-017-0391-x. PMID: 29410511
Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L
Am J Med Genet A 2017 Feb;173(2):541-545. Epub 2016 Nov 21 doi: 10.1002/ajmg.a.38055. PMID: 27868325
Usemann J, Ernst T, Schäfer V, Lehmberg K, Seeger K
Am J Med Genet A 2016 May;170A(5):1274-7. Epub 2016 Jan 14 doi: 10.1002/ajmg.a.37562. PMID: 26762561
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium., Rahman N
Am J Med Genet A 2013 Dec;161A(12):2972-80. Epub 2013 Nov 8 doi: 10.1002/ajmg.a.36229. PMID: 24214728

Therapy

Bedirli N, Işık B, Bashiri M, Pampal K, Kurtipek Ö
Medicine (Baltimore) 2018 Jan;97(3):e9661. doi: 10.1097/MD.0000000000009661. PMID: 29505006Free PMC Article
Sabin MA, Werther GA, Kiess W
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):207-20. doi: 10.1016/j.beem.2010.09.010. PMID: 21396586

Prognosis

Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration., Mahamdallie S, Seal S, Ruark E, Rahman N
Am J Hum Genet 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. PMID: 28475857Free PMC Article
Usemann J, Ernst T, Schäfer V, Lehmberg K, Seeger K
Am J Med Genet A 2016 May;170A(5):1274-7. Epub 2016 Jan 14 doi: 10.1002/ajmg.a.37562. PMID: 26762561
Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT
Hum Mutat 2016 Mar;37(3):301-7. Epub 2016 Jan 12 doi: 10.1002/humu.22946. PMID: 26694085Free PMC Article
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium., Rahman N
Am J Med Genet A 2013 Dec;161A(12):2972-80. Epub 2013 Nov 8 doi: 10.1002/ajmg.a.36229. PMID: 24214728
Voorhoeve PG, van Gils JF, Jansen M
Clin Dysmorphol 2002 Jan;11(1):49-52. doi: 10.1097/00019605-200201000-00010. PMID: 11826875

Clinical prediction guides

Bedirli N, Işık B, Bashiri M, Pampal K, Kurtipek Ö
Medicine (Baltimore) 2018 Jan;97(3):e9661. doi: 10.1097/MD.0000000000009661. PMID: 29505006Free PMC Article
Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R
J Hum Genet 2018 Apr;63(4):517-520. Epub 2018 Feb 6 doi: 10.1038/s10038-017-0391-x. PMID: 29410511
Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT
Hum Mutat 2016 Mar;37(3):301-7. Epub 2016 Jan 12 doi: 10.1002/humu.22946. PMID: 26694085Free PMC Article
McClure M, Kim E, Bickhart D, Null D, Cooper T, Cole J, Wiggans G, Ajmone-Marsan P, Colli L, Santus E, Liu GE, Schroeder S, Matukumalli L, Van Tassell C, Sonstegard T
PLoS One 2013;8(3):e59251. Epub 2013 Mar 20 doi: 10.1371/journal.pone.0059251. PMID: 23527149Free PMC Article
Voorhoeve PG, van Gils JF, Jansen M
Clin Dysmorphol 2002 Jan;11(1):49-52. doi: 10.1097/00019605-200201000-00010. PMID: 11826875

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center