Question: What is (are) Russell-Silver syndrome ?
Answer: Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner.
Source: GARD

Question: What are the symptoms of Russell-Silver syndrome ?
Answer: What are the signs and symptoms of Russell-Silver syndrome? Signs and symptoms of Russell-Silver syndrome (RSS) can vary and may include: intrauterine growth restriction low birth weight poor growth short stature curving of the pinky finger (clinodactyly) characteristic facial features (wide forehead; small, triangular face; and small, narrow chin) arms and legs of different lengths cafe-au-lait spots (birth marks) delayed bone age gastroesophageal reflux disease kidney problems "stubby" fingers and toes developmental delay learning disabilities The Human Phenotype Ontology provides the following list of signs and symptoms for Russell-Silver 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) Blue sclerae 90% Clinodactyly of the 5th finger 90% Decreased body weight 90% Downturned corners of mouth 90% Intrauterine growth retardation 90% Short stature 90% Triangular face 90% Asymmetric growth 50% Delayed skeletal maturation 50% Hypoglycemia 50% Thin vermilion border 50% Abnormality of the cardiovascular system 7.5% Abnormality of the urinary system 7.5% Cognitive impairment 7.5% Precocious puberty 7.5% Abnormality of the foot - Abnormality of the ureter - Cafe-au-lait spot - Congenital posterior urethral valve - Craniofacial disproportion - Craniopharyngioma - Delayed cranial suture closure - Fasting hypoglycemia - Frontal bossing - Growth hormone deficiency - Hepatocellular carcinoma - Hypospadias - Nephroblastoma (Wilms tumor) - Short distal phalanx of the 5th finger - Short middle phalanx of the 5th finger - Small for gestational age - Sporadic - Syndactyly - Testicular seminoma - 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

Question: What causes Russell-Silver syndrome ?
Answer: What causes Russell-Silver syndrome? Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases: abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is "turned on," or expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes that undergo imprinting are responsible for many cases of RSS. maternal disomy of chromosome 7 (written as matUPD7) - this occurs when a child inherits both copies of chromosome 7 from the mother, instead of one copy from the mother and one copy from the father. Other chromosome abnormalities involving any of several chromosomes have also been described as causing RSS, or RSS-like syndromes. In some people with RSS, the underlying cause remains unknown.
Source: GARD