Weaver Syndrome

Rare syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly.

Weaver-Smith Syndrome; WSS.

First described in 1974 by David D. Weaver, American physician and David Weyhe Smith, American pediatrician.

Isolated cases. Autosomal dominant inheritance presumed.

Caused by mutation in the nuclear receptor-binding Su-var (NSD1 gene), which is located on 5q35.

Clinically by characteristic facies associated with tall stature, large head, ears, and hands, and a low-pitched voice.

Increased prenatal weight and height. Development and speech are delayed; there are mental retardation and behavioral problems. Others features involve head and neck (flattened occiput, short broad neck, long philtrum, retrognathia, anterior and cephalad position of the larynx, strabismus, hypertelorism, epicanthal folds, down-slanting palpebral fissures, depressed nasal bridge), skeleton (short ribs, disharmonic and advanced bone age, scoliosis, kyphosis, small iliac wings, coxa valga, limited elbow and knee extension, flared metaphyses, camptodactyly, clinodactyly, broad thumbs, feet malformations), genitourinary (GU) (inverted nipples, inguinal hernia, hydrocele, cryptorchism), skin (loose skin, thin hair and nails), and central nervous system (CNS) (hypertonia, spasticity, seizures, absent septum pellucidum, lateral ventricle dilatation). Congenital cardiac defects may occur.

Evaluate carefully the oropharyngeal anatomy for eventual direct laryngoscopy and tracheal intubation (clinical, radiographs), neurological function (clinical, CT/MRI, EEG), renal function (clinical, echography, lab) and cardiac function (clinical, ECG, echography).

Tracheal intubation can be difficult because of retrognathia, short broad neck and an anterior and cephalad position of the larynx. It may require adapted anesthetic management. Fiberoptic intubation can be useful. The accessibility to a laryngeal mask airway in case of failed tracheal intubation may also be very useful. Careful intraoperative positioning is needed because of skeletal deformities. Regional anesthesia is not contraindicated but can be difficult to realize because of deformations and spasticity.

Consider interaction between antiepileptic treatment and anesthetic drugs. Avoid muscle relaxants until airway is secured and lung ventilation is confirmed.

Marshall-Smith Syndrome: Considered similar to the Weaver-Smith syndrome because of the early and rapidly progressive growth and bone maturation. Individuals affected with Marshall-Smith syndrome are underweight in relation to their height and may present with respiratory problems.

McCune-Albright Syndrome: Involves the endocrine and musculo-skeletal systems in children. It is characterized by precocious sexual development, osseous pain caused by alteration of bone integrity, leading to skeleton deformity and disability. Most individuals present with changes in skin pigmentation. Children affected by this disorder present as excessively tall during childhood but smaller during adolescence.

Gigantism: Occurs before puberty and is characterized by excessive growth during childhood with relatively normal body proportions and sexual development. Height sometimes reaches 7 or 8 feet.

Sotos Syndrome: A rare hereditary disorder characterized by excessive growth (over the 90th percentile) during the first 4 to 5 years of life. It may affect ...