Spastic paraplegia facial cutaneous lesions

Title

Other Names:

Bahemuka Brown syndrome

Categories:

Congenital and Genetic 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: 2819

Disease definition

Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.

Visit the Orphanet disease page for more resources.

Last updated: 8/28/2017

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
EEG abnormality		0002353
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Hyperpigmentation of the skin	Patchy darkened skin	0000953
Hyperreflexia	Increased reflexes	0001347
Hypopigmented skin patches	Patchy loss of skin color	0001053
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Paraplegia	Leg paralysis	0010550
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Urticaria	Hives	0001025

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Do you have more information about symptoms of this disease? We want to hear from you.

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 Spastic paraplegia facial cutaneous lesions. Click on the link to view a sample search on this topic.

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News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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