Smith-Kingsmore syndrome

Title

Other Names:

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; MINDS syndrome; Macrocephaly, seizures, intellectual disability, umbilical hernia, and facial dysmorphism

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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Cafe-au-lait spot		0000957
Curly hair		0002212
Decreased circulating IgA level		0002720
Deep palmar crease	Deep palm line	0006191
Deep plantar creases	Deep wrinkles in soles of feet	0001869
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
Diastasis recti	Gap between large left and right abdominal muscles	0001540
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Frontal bossing		0002007
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hemimegalencephaly		0007206
High forehead		0000348
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoglycemia	Low blood sugar	0001943
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Long philtrum		0000343
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Open mouth	Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ]	0000194
Perisylvian polymicrogyria		0012650
Rhizomelia	Disproportionately short upper portion of limb	0008905
Seizures	Seizure	0001250
Short chin	Decreased height of chin Short lower third of face [ more ]	0000331
Short distal phalanx of finger	Short outermost finger bone	0009882
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short proximal phalanx of finger	Short innermost finger bones	0010241
Smooth philtrum		0000319
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Thin upper lip vermilion	Thin upper lip	0000219
Thrombocytopenia	Low platelet count	0001873
Umbilical hernia		0001537
Wide anterior fontanel	Wider-than-typical soft spot of skull	0000260
Wide mouth	Broad mouth Large mouth [ more ]	0000154

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

Last updated: 2/1/2019

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Diagnosis Diagnosis

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.

Organizations Organizations

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

Smith-Kingsmore Syndrome Website
E-mail: https://smithkingsmore.org/contact/
Website: https://smithkingsmore.org/

Do you know of an organization? We want to hear from you.

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

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 Smith-Kingsmore syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

GARD Answers GARD Answers

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