Question: What is (are) Weaver syndrome ?
Answer: 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. Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene. Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
Source: GARD

Question: What are the symptoms of Weaver syndrome ?
Answer: What are the signs and symptoms of Weaver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weaver syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Accelerated skeletal maturation 90% Broad forehead 90% Cognitive impairment 90% Cutis laxa 90% Hypertelorism 90% Hypoplastic toenails 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Macrotia 90% Tall stature 90% Abnormality of thumb phalanx 50% Broad foot 50% Camptodactyly of finger 50% Deep philtrum 50% Fine hair 50% Hernia of the abdominal wall 50% Large hands 50% Limitation of joint mobility 50% Round face 50% Cryptorchidism 7.5% Finger syndactyly 7.5% Hypoplasia of penis 7.5% Joint hypermobility 7.5% Pes cavus 7.5% Sandal gap 7.5% Scoliosis 7.5% Talipes 7.5% Abnormally low-pitched voice - Absent septum pellucidum - Autosomal dominant inheritance - Behavioral abnormality - Broad thumb - Calcaneovalgus deformity - Camptodactyly - Chin dimple - Clinodactyly - Coxa valga - Deep-set nails - Delayed speech and language development - Depressed nasal bridge - Diastasis recti - Dilation of lateral ventricles - Dysarthria - Dysharmonic bone age - Epicanthus - Flared femoral metaphysis - Flared humeral metaphysis - Hydrocele testis - Hypertonia - Hypoplastic iliac wing - Inguinal hernia - Intellectual disability - Inverted nipples - Joint contracture of the hand - Kyphosis - Limited elbow extension - Limited knee extension - Mandibular prognathia - Muscular hypotonia - Overlapping toe - Prominent fingertip pads - Radial deviation of finger - Retrognathia - Seizures - Short fourth metatarsal - Short ribs - Slurred speech - Sparse hair - Spasticity - Strabismus - Talipes equinovarus - Thin nail - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD