What is Weaver syndrome?
Weaver syndrome is characterized by excessive physical growth in an individual, this rapid osseous growth usually starts prenatally.
Males have been found to be three times more likely to be affected by the syndrome than females.
Syndrome Synonyms:
Weaver-Smith Syndrome; Wss
What gene change causes Weaver syndrome?
It is caused by mutations in the EZH2 gene, and though most mutations are are mutations, it can also be inherited in an autosomal dominant pattern.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Weaver syndrome?
Rapid growth is the main symptom. This may include a tall head, but not in every case. Faster bone development is part of this rapid growth.
Other physical features include increased muscle tone, exaggerated reflexes, and the slower development of voluntary movements.
Babies with the syndrome have a distinct, hoarse, low-pitched cry.
Unique facial features of the syndrome include very wide set eyes, eye folds, a flat back of the head, thin hair, a broad forehead, very large ears, a smaller jaw, broad thumbs, bent fingers, a very high arch, malformed toes and a clubfoot.
Possible clinical traits/features:
Behavioral abnormality, Calcaneovalgus deformity, Broad thumb, Broad foot, Accelerated skeletal maturation, Absent septum pellucidum, Abnormally low-pitched voice, Abnormality of thumb phalanx, Abnormal fingernail morphology, Broad forehead, Hernia of the abdominal wall, Hydrocele testis, Delayed speech and language development, Depressed nasal bridge, Global developmental delay, Cognitive impairment, Kyphosis, Hypertelorism, Hypertonia, Hypoplasia of penis, Hypoplastic toenails, Short ribs, Hypoplastic iliac wing, Joint contracture of the hand, Joint hypermobility, Large hands, Macrotia, Limited elbow extension, Limited knee extension, Mandibular prognathia, Micrognathia, Metatarsus adductus, Low-set, posteriorly rotated ears, Long philtrum, Muscular hypotonia, Tall stature, Inverted nipples, Inguinal hernia, Intellectual disability, Deep philtrum, Limitation of joint mobility, Finger syndactyly, Fine hair, Flared humeral metaphysis, Flared femoral metaphysis, Cryptorchidism, Coxa valga, Cutis laxa.
How is it diagnosed?
To find out if someone has a diagnosis of Weaver syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
