Rare Hematology News
Advertisement
Disease Profile
Polyhydramnios, megalencephaly, and symptomatic epilepsy 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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
PMSE Syndrome; Pretzel syndrome
Summary
Polyhydramnios, megalencephaly, and symptomatic
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
5%-29% of people have these symptoms | ||
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
1%-4% of people have these symptoms | ||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Diabetes insipidus | 0000873 | |
Hyperplasia of midface |
Midfacial excess
Midfacial prominence
[ more ] |
0012371 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Large forehead |
Increased size of forehead
|
0002003 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Muscular |
Low or weak muscle tone
|
0001252 |
Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ] |
0000215 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Percent of people who have these symptoms is not available through HPO | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Astrocytosis | 0002446 | |
0000007 | ||
Difficulty walking |
Difficulty in walking
|
0002355 |
Facial hypotonia |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] |
0000297 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Inability to walk | 0002540 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Megalencephaly | 0001355 | |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
0001250 | ||
Slender build |
Thin build
|
0001533 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Ventriculomegaly | 0002119 |
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
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome. Click on the link to view a sample search on this topic.
References
- Polyhydramnios, megalencephaly, and symptomatic epilepsy. OMIM. February, 2010; https://www.omim.org/entry/611087.
- Puffenberger EG. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain. July, 2007; 130(Pt 7):1929-41. https://brain.oxfordjournals.org/content/130/7/1929.long.
- Ostendorf AP & Wong M.. mTOR inhibition in epilepsy: rationale and clinical perspectives. CNS Drugs. February, 2015; 29(2):91-9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351152/.