Questions about rare diseases?

Disease Information

Summary
Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.
Summary
Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.
Resource(s) for Medical Professionals and Scientists on This Disease:
This section is currently in development.

About Congenital hypothyroidism

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:Fewer than 200,000 people in the U.S. have thisdisease.
  • Symptoms:May start to appear during Pregnancy and as a Newborn.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
  • Newborn Screening:This disease may be detected through newborn screening tests performed soon afterbirth.
  • Categories:GeneticdiseasesEndocrinediseases

Causes

What Causes This Disease?

Genetic Mutations

Can This Disease Be Passed Down From Parent to Child?

Autosomal Recessive

When Do Symptoms of Congenital hypothyroidism Begin?

Symptoms of this disease may start to appear during Pregnancy and as a Newborn.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear during Pregnancy and as a Newborn.

Symptoms

The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
Digestive System Digestive System

48 Symptoms

48 Symptoms

48 Symptoms

Body Systems

Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Description and Synonyms
Frequency
Abdominal distention

Distention of the abdomen.

Synonyms:Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormal eyelid morphology

An abnormality of the eyelids.

Synonyms:Abnormality of the eyelid; Abnormality of the eyelids

Frequency
Uncommon
Frequent
Frequent
Always
Abnormal hair morphology

An abnormality of the hair.

Synonyms:Abnormality of the hair; Hair abnormality

Frequency
Uncommon
Frequent
Frequent
Always
Abnormal pericardium morphology

An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.

Synonyms:Abnormality of the pericardium

Frequency
Uncommon
Occasional
Occasional
Always
Abnormality of epiphysis morphology

An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.

Synonyms:Abnormal shape of end part of bone; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality

Frequency
Uncommon
Occasional
Occasional
Always
Abnormality of reproductive system physiology

An abnormal functionality of the genital system.

Synonyms:Abnormality of reproductive system physiology; Genital functional abnormality

Frequency
Uncommon
Occasional
Occasional
Always
Abnormality of the eye

Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Synonyms:Abnormal eye; Abnormality of the eye

Frequency
Uncommon
Occasional
Occasional
Always
Abnormality of the face

An abnormality of the face.

Synonyms:Abnormal face; Abnormality of the face; Facial abnormality

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormality of the thyroid gland

An abnormality of the thyroid gland.

Synonyms:Abnormality of the thyroid gland; Thyroid abnormality

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormality of vision

Abnormality of eyesight (visual perception).

Synonyms:Abnormality of sight; Abnormality of vision; Vision issue

Frequency
Uncommon
Occasional
Occasional
Always
Angiokeratoma corporis diffusum

Synonyms:Fabry syndrome

Frequency
Uncommon
Frequent
Frequent
Always
Anosmia

An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.

Synonyms:Loss of smell; Lost smell

Frequency
Uncommon
Frequent
Frequent
Always
Anterior hypopituitarism

A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.

Frequency
Uncommon
Occasional
Occasional
Always
Anxiety

Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.

Synonyms:Anxiety; Anxiousness; Excessive, persistent worry and fear

Frequency
Uncommon
Frequent
Frequent
Always
Arrhythmia

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.

Synonyms:Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat

Frequency
Uncommon
Occasional
Occasional
Always
Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Synonyms:Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity

Frequency
Uncommon
Occasional
Occasional
Always
Coarse facial features

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies

Frequency
Uncommon
Frequent
Frequent
Always
Constipation

Infrequent or difficult evacuation of feces.

Synonyms:Constipation; Costiveness; Dyschezia

Frequency
Uncommon
Very frequent
Very frequent
Always
Depressed nasal ridge

Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.

Synonyms:Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge

Frequency
Uncommon
Frequent
Frequent
Always
Depression

Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.

Synonyms:Depression; Depressivity

Frequency
Uncommon
Frequent
Frequent
Always
Feeding difficulties in infancy

Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.

Frequency
Uncommon
Very frequent
Very frequent
Always
Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development

Frequency
Uncommon
Frequent
Frequent
Always
Goiter

An enlargement of the thyroid gland.

Synonyms:Enlarged thyroid gland in neck; Thyroid goiter

Frequency
Uncommon
Occasional
Occasional
Always
Hearing impairment

A decreased magnitude of the sensory perception of sound.

Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis

Frequency
Uncommon
Occasional
Occasional
Always
Hoarse cry

Synonyms:Hoarse cry

Frequency
Uncommon
Frequent
Frequent
Always
Hypertension

The presence of chronic increased pressure in the systemic arterial system.

Synonyms:Arterial hypertension; Systemic hypertension

Frequency
Uncommon
Occasional
Occasional
Always
Hypogonadism

A decreased functionality of the gonad.

Synonyms:Decreased activity of gonads

Frequency
Uncommon
Frequent
Frequent
Always
Hypotension

Low Blood Pressure, vascular hypotension.

Synonyms:Arterial hypotension; Low blood pressure

Frequency
Uncommon
Occasional
Occasional
Always
Hypothyroidism

Deficiency of thyroid hormone.

Synonyms:Low T4; Underactive thyroid

Frequency
Uncommon
Very frequent
Very frequent
Always
Hypotonia

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia

Frequency
Uncommon
Very frequent
Very frequent
Always
Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation

Frequency
Uncommon
Frequent
Frequent
Always
Intellectual disability, severe

Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.

Synonyms:Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation

Frequency
Uncommon
Frequent
Frequent
Always
Intestinal obstruction

Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.

Synonyms:Bowel obstruction; Intestinal blockage; Intestinal obstruction

Frequency
Uncommon
Occasional
Occasional
Always
Large fontanelles

In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.

Synonyms:Enlarged fontanelles; Large fontanel; Large fontanelle; Large fontanels; Persistent wide fontanel; Wide fontanelles

Frequency
Uncommon
Very frequent
Very frequent
Always
Large posterior fontanelle

An enlargement of the posterior fontanelle relative to age-dependent norms.

Synonyms:Large posterior fontanel

Frequency
Uncommon
Very frequent
Very frequent
Always
Macroglossia

Increased length and width of the tongue.

Synonyms:Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy

Frequency
Uncommon
Very frequent
Very frequent
Always
Nephrolithiasis

The presence of calculi (stones) in the kidneys.

Synonyms:Kidney stones; Renal calculi; Renal stones

Frequency
Uncommon
Occasional
Occasional
Always
Optic atrophy

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Synonyms:Optic nerve atrophy; Optic-nerve degeneration

Frequency
Uncommon
Occasional
Occasional
Always
Oral cleft

The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.

Synonyms:Cleft of the mouth; Oral clefting

Frequency
Uncommon
Occasional
Occasional
Always
Paresthesia

Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.

Synonyms:Paresthesias; Pins and needles feeling; Tingling

Frequency
Uncommon
Occasional
Occasional
Always
Prolonged neonatal jaundice

Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.

Synonyms:Neonatal jaundice; Prolonged yellowing of skin in newborn

Frequency
Uncommon
Very frequent
Very frequent
Always
Reduced tendon reflexes

Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.

Synonyms:Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes

Frequency
Uncommon
Frequent
Frequent
Always
Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile

Frequency
Uncommon
Frequent
Frequent
Always
Sinusitis

Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.

Synonyms:Sinus inflammation

Frequency
Uncommon
Frequent
Frequent
Always
Sleep disturbance

An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.

Synonyms:Difficulty sleeping; Sleep disturbances; Sleep dysfunction; Trouble sleeping

Frequency
Uncommon
Very frequent
Very frequent
Always
Thyroid dysgenesis

Synonyms:Thyroid dysplasia

Frequency
Uncommon
Very frequent
Very frequent
Always
Tracheoesophageal fistula

An abnormal connection (fistula) between the esophagus and the trachea.

Frequency
Uncommon
Occasional
Occasional
Always
Umbilical hernia

Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.

Synonyms:Umbilical hernias

Frequency
Uncommon
Very frequent
Very frequent
Always

Diagnostic Journey

On average, it takes more than six years to receive an accurate rare disease diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and you may need to see multiple specialists to reach the correct diagnosis. However, advocating for yourself with your healthcare team may help speed your time to diagnosis. To combat common challenges, be prepared:

  • Find disease-specific information to discuss with your healthcare providers.
  • Ask for diagnostic tests.
  • Request referrals to specialists.

Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis

Your Diagnostic Team

How can a diagnostic team help?

Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.

Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.
Diagnostic teams for Congenital hypothyroidism may include:
 

Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.



Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.




Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

 

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD.

Patient Organizations

6 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Congenital hypothyroidism

Helpful Links
Country

United States

People With

Congenital hypothyroidism

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participate in Research

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.

Last Updated: December 2024