Rare Nephrology News
Disease Profile
Mac Dermot Winter syndrome
Prevalence
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.
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.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
Q87.8
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)
Prominent glabella microcephaly hypogenitalism; Macdermot-Winter syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2083
Definition
Prominent glabella ? microcephaly ? hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
Visit the Orphanet disease page for more resources.
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
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormal hair pattern |
Abnormal distribution of hair
|
0010720 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
| Global |
0001263 | |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
| Hypertonia | 0001276 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Macrotia |
Large ears
|
0000400 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent glabella |
Prominent area between the eyebrows
Protruding area between the eyebrows
[ more ] |
0002057 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| 0001250 | ||
| Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the voice |
Voice abnormality
|
0001608 |
| Bilateral single transverse palmar creases | 0007598 | |
|
Short fingers or toes
|
0001156 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Hydronephrosis | 0000126 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
| Frontal upsweep of hair |
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ] |
0002236 |
| Hypoplastic male external genitalia |
Small male external genitalia
Underdeveloped male genitalia
[ more ] |
0000050 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
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.
- 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.
- 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 Mac Dermot Winter syndrome. Click on the link to view a sample search on this topic.