Rare Gastroenterology 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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 developmental delay
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
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
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
Seizure
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
Brachydactyly
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
Autosomal recessive inheritance
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.