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

SSR4-CDG


Other Names:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y ; CDG IY; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y ; CDG IY; CDGIy; Congenital disorder of glycosylation type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; CDG syndrome type Iy; CDG-Iy; Congenital disorder of glycosylation type 1y See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 370927

Definition
SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
80%-99% of people have these symptoms
Abnormality of upper lip vermillion 0011339
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Macrotia
Large ears
0000400
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Vomiting
Throwing up
0002013
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth
[ more ] 		0000687
30%-79% of people have these symptoms
Seizure 0001250
5%-29% of people have these symptoms
Abnormality of coagulation 0001928
Abnormality of the periventricular white matter 0002518
Absent septum pellucidum 0001331
Horseshoe kidney
Horseshoe kidneys
0000085
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Joint dislocation
Joint dislocations
Recurrent joint dislocations
[ more ] 		0001373
Scoliosis 0002650
1%-4% of people have these symptoms
Abnormality of the coagulation cascade 0003256
Patent ductus arteriosus 0001643
Percent of people who have these symptoms is not available through HPO
Clinodactyly
Permanent curving of the finger
0030084
Congenital onset
Symptoms present at birth
0003577
Hypospadias 0000047
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Type I transferrin isoform profile 0003642
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020

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

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.

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.

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