Rare Oncology News
Advertisement
Disease Profile
Fetal hydantoin syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
Q86.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Dilantin Embryopathy; Phenytoin Embryopathy
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases
Summary
Fetal hydantoin
Symptoms
Children with this condition may be small at birth, with increased hair on the body and face, and with poorly developed fingernails and toenails.[1] They may also have poor muscle tone.[1] Facial features that may be present with this syndrome include a flat bridge of the nose; an underdeveloped vertical groove in the center of the upper lip (philtrum); a large mouth; and malformed ears. Features specific to the eyes may include down-slanted eyes; widely spaced eyes (hypertelorism);
These features are often associated with growth delay and varying degrees of
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal dermatoglyphics |
Abnormal fingerprints
|
0007477 |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Low-set, posteriorly rotated ears | 0000368 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
30%-79% of people have these symptoms | ||
Abnormality of the fontanelles or cranial sutures | 0000235 | |
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Coarse hair |
Coarse hair texture
|
0002208 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Global developmental delay | 0001263 | |
Hernia | 0100790 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ] |
0001804 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Ptosis |
Drooping upper eyelid
|
0000508 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
5%-29% of people have these symptoms | ||
Abnormality of the cardiovascular system |
Cardiovascular abnormality
|
0001626 |
Cleft roof of mouth
|
0000175 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Neoplasm | 0002664 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
About Face International
51 Wolseley Street
Toronto, ON M5T 1A4
Canada
Toll-free: 1-800-665-3223
Telephone: +1-416-597-2229
Fax: +1-416-597-8494
E-mail: [email protected]
Website: https://www.aboutface.ca/ -
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: [email protected]
Website: https://www.birthdefects.org/ -
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: [email protected]
Website: https://ccakids.org/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: [email protected]
Website: https://www.faces-cranio.org/
Organizations Providing General Support
-
American Association on Intellectual and Developmental Disabilities
501 3rd Street NW
Suite 200
Washington, DC 20001
Toll-free: (800) 424-3688
Telephone: (202) 387-1968
Fax: (202) 387-2193
Website: https://www.aaidd.org -
The Society for Developmental and Behavioral Pediatrics
6728 Old McLean Village Drive
McLean, VA 22101
Telephone: 703-556-9222
E-mail: [email protected]
Website: https://www.sdbp.org/index.cfm
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fetal hydantoin syndrome. Click on the link to view a sample search on this topic.
References
- Fetal Hydantoin Syndrome. NORD. April 25, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/948/viewAbstract. Accessed 8/9/2011.
- Aaron B Caughey. Seizure Disorders in Pregnancy. eMedicine. June 28, 2011; https://emedicine.medscape.com/article/272050-overview#aw2aab6b3. Accessed 8/10/2011.
- E. Robert-Gnansia. Fetal hydantoin syndrome. Orphanet. February 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1912. Accessed 8/10/2011.
Rare Oncology News