Hyperthermia induced defects

Title

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2216

Disease definition

Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.

Visit the Orphanet disease page for more resources.

Last updated: 12/19/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
EEG abnormality		0002353
Muscular hypotonia	Low or weak muscle tone	0001252
Seizures	Seizure	0001250
Short stature	Decreased body height Small stature [ more ]	0004322
30%-79% of people have these symptoms
Abnormality of neuronal migration		0002269
Aplasia/Hypoplasia affecting the eye	Absent/small eye Absent/underdeveloped eye [ more ]	0008056
Bilateral single transverse palmar creases		0007598
Cleft palate		0000175
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Hypoplasia of penis	Underdeveloped penis	0008736
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
5%-29% of people have these symptoms
Hypertonia		0001276

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Last updated: 11/1/2018

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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