Question: What is (are) Congenital hypothyroidism ?
Answer: Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.
Source: GARD

Question: What are the symptoms of Congenital hypothyroidism ?
Answer: What are the signs and symptoms of Congenital hypothyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital hypothyroidism. 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 fontanelles or cranial sutures 90% Abnormality of the liver 90% Abnormality of the tongue 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Constipation 90% Hypothyroidism 90% Muscular hypotonia 90% Sleep disturbance 90% Umbilical hernia 90% Coarse facial features 50% Cognitive impairment 50% Depressed nasal ridge 50% Dry skin 50% Hypothermia 50% Short stature 50% Sinusitis 50% Thickened skin 50% Abnormality of epiphysis morphology 7.5% Abnormality of reproductive system physiology 7.5% Abnormality of the pericardium 7.5% Anterior hypopituitarism 7.5% Arrhythmia 7.5% Cataract 7.5% Goiter 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypotension 7.5% Intestinal obstruction 7.5% Nephrolithiasis 7.5% Optic atrophy 7.5% Oral cleft 7.5% Paresthesia 7.5% Tracheoesophageal fistula 7.5% Autosomal recessive inheritance - Congenital hypothyroidism - Infantile onset - Thyroid hypoplasia - Thyroid-stimulating hormone excess - 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