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Disease Profile

Smith-Kingsmore syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Megalencephaly
0001355
30%-79% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Curly hair
0002212
Focal-onset seizure
Seizure affecting one half of brain
0007359
Frontal bossing
0002007
Generalized-onset seizure
0002197
Global developmental delay
0001263
Large for gestational age
Birth weight > 90th percentile
Birthweight > 90th percentile

[ more ]

0001520
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Specific learning disability
0001328
Ventriculomegaly
0002119
5%-29% of people have these symptoms
Abnormal corpus callosum morphology
0001273
Asthma
0002099
Autistic behavior
0000729
Cafe-au-lait spot
0000957
Capillary malformation
0025104
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Diastasis recti
Gap between large left and right abdominal muscles
0001540
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hemangioma
Strawberry mark
0001028
Hyperactivity
More active than typical
0000752
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypopigmented skin patches
Patchy loss of skin color
0001053
Lactose intolerance
Milk intolerance
0004789
Long philtrum
0000343
Muscular hypotonia
Low or weak muscle tone
0001252
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ more ]

0000194
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Polymicrogyria
More grooves in brain
0002126
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Thoracic hypoplasia
Small chest
Small thorax

[ more ]

0005257
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
1%-4% of people have these symptoms
Allergy
0012393
Decreased circulating IgA level
0002720
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
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hypospadias
0000047
Intestinal polyp
0005266
Neonatal hypoglycemia
Low blood sugar in newborn
0001998
Short chin
Decreased height of chin
Short lower third of face

[ more ]

0000331
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Deep palmar crease
Deep palm line
0006191
Deep plantar creases
Deep wrinkles in soles of feet
0001869
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hemimegalencephaly
0007206
High forehead
0000348
Hypoglycemia
Low blood sugar
0001943
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Perisylvian polymicrogyria
0012650
Rhizomelia
Disproportionately short upper portion of limb
0008905
Seizure
0001250
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

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.

Social Networking Websites

    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.

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