National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Multiple sulfatase deficiency


Other Names:
MSD; Juvenile sulfatidosis; Mucosulfatidosis; MSD; Juvenile sulfatidosis; Mucosulfatidosis; Sulfatidosis juvenile, Austin type See More
Categories:
This disease is grouped under:
Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton.[1][2] The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. The juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood. Life expectancy is shortened in all types.[1] Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. It is inherited in an autosomal recessive pattern.[1][2] There is no cure for multiple sulfatase deficiency. Treatment includes physical therapy and supportive services.[2]  
Last updated: 2/24/2016

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.

Showing of 50 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of peripheral nerve conduction 0003134
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Global developmental delay 0001263
Hepatomegaly
Enlarged liver
0002240
Ichthyosis 0008064
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Mucopolysacchariduria 0008155
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Rapid neurologic deterioration 0007307
Splenomegaly
Increased spleen size
0001744
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
30%-79% of people have these symptoms
Abnormality of retinal pigmentation 0007703
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe
[ more ] 		0010059
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Coarse facial features
Coarse facial appearance
0000280
Coarse hair
Coarse hair texture
0002208
Corneal opacity 0007957
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Optic atrophy 0000648
Seizure 0001250
Sensorineural hearing impairment 0000407
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Smooth philtrum 0000319
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] 		0000574
5%-29% of people have these symptoms
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Percent of people who have these symptoms is not available through HPO
Abnormality of the periventricular white matter 0002518
Ataxia 0001251
Autosomal recessive inheritance 0000007
Broad hallux
Broad big toe
Wide big toe
[ more ] 		0010055
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
CNS demyelination 0007305
Dysostosis multiplex 0000943
Flat face
Flat facial shape
0012368
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hypoplastic vertebral bodies
Underdeveloped back bones
0008479
Increased CSF protein 0002922
Large forehead
Increased size of forehead
0002003
Lower limb hyperreflexia
Overactive lower leg reflex
0002395
Periorbital edema 0100539
Peripheral demyelination 0011096
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ] 		0011220
Retinal degeneration
Retina degeneration
0000546
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Ventriculomegaly 0002119
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • The MSD Patient Registry supports research for Multiple sulfatase deficiency by collecting information about patients with this diagnosis. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.
  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

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.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 Multiple sulfatase deficiency. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Multiple sulfatase deficiency. Genetics Home Reference (GHR). July 2014; http://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency.
  2. Guide to Understanding Multiple Sulfatase Deficiency (MSD). Society for Mucopolysaccharide Diseases (MPS Society). http://www.mpssociety.org.uk/media/filer_public/76/fa/76faa371-d1a1-453b-b2c1-7e49b6216ffb/guide-msd-2013.pdf. Accessed 2/24/2016.