Weaver syndrome

From WikiMD's Wellnesspedia


Prab-R-Tumpati-MD.jpeg

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss and sleep centers



WikiMD Resources for Weaver syndrome
Articles
Most recent articles on Weaver syndrome

Most cited articles on Weaver syndrome Review articles on Weaver syndrome

Articles on Weaver syndrome in N Eng J Med, Lancet, BMJ

Media
Powerpoint slides on Weaver syndrome

Images of Weaver syndrome Photos of Weaver syndrome

Podcasts & MP3s on Weaver syndrome Videos on Weaver syndrome

Evidence Based Medicine
Cochrane Collaboration on Weaver syndrome

Bandolier on Weaver syndrome TRIP on Weaver syndrome

Clinical Trials
Ongoing Trials on Weaver syndrome at Clinical Trials.gov

Trial results on Weaver syndrome Clinical Trials on Weaver syndrome at Google

Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Weaver syndrome

NICE Guidance on Weaver syndrome NHS PRODIGY Guidance

FDA on Weaver syndrome CDC on Weaver syndrome

Books
Books on Weaver syndrome
News
Weaver syndrome in the news

Be alerted to news on Weaver syndrome News trends on Weaver syndrome

Commentary
Blogs on Weaver syndrome
Definitions
Definitions of Weaver syndrome
Patient Resources / Community
Patient resources on Weaver syndrome

Discussion groups on Weaver syndrome Patient Handouts on Weaver syndrome

Directions to Hospitals Treating Weaver syndrome Risk calculators and risk factors for Weaver syndrome

Healthcare Provider Resources
Symptoms of Weaver syndrome

Causes & Risk Factors for Weaver syndrome Diagnostic studies for Weaver syndrome

Treatment of Weaver syndrome

Continuing Medical Education (CME)
CME Programs on Weaver syndrome
International / other languages

syndrome en Espanol syndrome en Francais

Business
Weaver syndrome in the Marketplace

Patents on Weaver syndrome

Experimental / Informatics
List of terms related to Weaver syndrome


Other Names[edit | edit source]

Weaver Smith syndrome; WSS; Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

Clinical features[edit | edit source]

Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma.

Incidence[edit | edit source]

Weaver syndrome is rare and affects about 1 in 15,000 cases

Cause[edit | edit source]

Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene.

Inheritance[edit | edit source]

Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition.

Autosomal Dominant Inheritance
Autosomal Dominant Inheritance

Symptoms[edit | edit source]

80%-99% of people have these symptoms

30%-79% of people have these symptoms

  • Broad foot
  • Broad thumb
  • Camptodactyly of finger
  • Deep philtrum
  • Feeding difficulties in infancy
  • Fine hair
  • Inguinal hernia
  • Joint stiffness
  • Large hands
  • Round face

5%-29% of people have these symptoms

Less common symptoms[edit | edit source]

  • Absent septum pellucidum
  • Autosomal dominant inheritance
  • Behavioral abnormality
  • Calcaneovalgus deformity
  • Camptodactyly
  • Clinodactyly
  • Coxa valga
  • Cutis laxa
  • Delayed speech and language development
  • Depressed nasal bridge
  • Diastasis recti
  • Dilation of lateral ventricles
  • Dimple chin
  • Dysarthria
  • Dysharmonic bone age
  • Epicanthus
  • Flared femoral metaphysis
  • Flared humeral metaphysis
  • Generalized hypotonia
  • Hydrocele testis
  • Hypertonia
  • Hypoplastic iliac wing
  • Inverted nipples
  • Joint contracture of the hand
  • Kyphosis
  • Limited elbow extension
  • Limited knee extension
  • Mandibular prognathia
  • Metatarsus adductus
  • Muscular hypotonia
  • Overlapping toe
  • Prominent fingertip pads
  • Radial deviation of finger
  • Seizure
  • Short fourth metatarsal
  • Short ribs
  • Slurred speech
  • Sparse hair
  • Strabismus
  • Umbilical hernia

Diagnosis[edit | edit source]

Making a diagnosis for a genetic or rare disease can often be challenging and a detailed history including family history, imaging studies, blood work, and genetic testing.

Treatment[edit | edit source]

  • Treatment is based on the signs and symptoms present in each person.
  • There is no cure available for Weaver syndrome. However, with multidisciplinary management such as neurological, pediatric, orthopedic and psychomotor care and genetic counseling, symptoms can be managed. Surgery may be used to correct any skeletal issues.
  • Physical and occupational therapy are considered an option to help with muscle tone. Speech therapy is often recommended for speech related problems.

Prognosis[edit | edit source]

With appropriate treatment and management, patients with Weaver syndrome appear to do well, both physically and intellectually, throughout their life and have a normal lifespan.

History[edit | edit source]

The condition was first described by American physician David Weaver in 1974.

Latest research (Pubmed)[edit | edit source]

PubMed

Matsuo M. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):806-7. PMID: 11529033 Review. Japanese. No abstract available.

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. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. PMID: 24214728 Free article. Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome.

Huffman C, McCandless D, Jasty R, Matloub J, Robinson HB, Weaver DD, Cohen MM Jr. Am J Med Genet. 2001 Mar 15;99(3):252-5. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1169>3.0.co;2-l. PMID: 11241499 We report on an infant with Weaver syndrome, neoplasia and cardiovascular anomalies. Stage 4S neuroblastoma underwent spontaneous resolution.

Coulter D, Powell CM, Gold S. J Pediatr Hematol Oncol. 2008 Oct;30(10):758-60. doi: 10.1097/MPH.0b013e3181758974. PMID: 19011474 Overgrowth syndromes such as Beckwith-Wiedemann syndrome, Sotos syndrome, and Weaver syndrome have an increased risk of neoplasia.

Villani A, Greer MC, Kalish JM, Nakagawara A, Nathanson KL, Pajtler KW, Pfister SM, Walsh MF, Wasserman JD, Zelley K, Kratz CP. Clin Cancer Res. 2017 Jun 15;23(12):e83-e90. doi: 10.1158/1078-0432.CCR-17-0631. PMID: 28620009 Free article. Review. For all syndromes, the panel recommends increased awareness and prompt assessment of clinical symptoms. Patients with Costello syndrome have the highest cancer risk, and cancer surveillance should be considered.

Tsukahara M, Tsujino K. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):258-9. PMID: 11057220 Review. No abstract available

Frequently asked questions[edit | edit source]

  • What causes Weaver syndrome?
  • Is Weaver Syndrome a disability?
  • How is Weaver syndrome inherited?
  • What is the life expectancy of someone with Weaver syndrome?
  • What are the differences between weavers and Soto's syndrome?

See also[edit | edit source]

Wikipedia


Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.


Contributors: Prab R. Tumpati, MD