Microcephaly microcornea syndrome Seemanova type

Title

Other Names:

X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation; Seemanova Lesny syndrome; Microcephaly-microcornea syndrome, Seemanova type

Categories:

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary Summary

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

Orpha Number: 2528

Disease definition

Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.

Visit the Orphanet disease page for more resources.

Last updated: 9/22/2007

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
Brachycephaly	Short and broad skull	0000248
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypogonadism	Decreased activity of gonads	0000135
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microcornea	Cornea of eye less than 10mm in diameter	0000482
Microphthalmia	Abnormally small eyeball	0000568
Narrow mouth	Small mouth	0000160
Progressive spasticity		0002191
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Short stature	Decreased body height Small stature [ more ]	0004322
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582

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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.
PubMed is a searchable database of medical literature and lists journal articles that discuss Microcephaly microcornea syndrome Seemanova type. Click on the link to view a sample search on this topic.

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The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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