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Disease Profile

Intellectual disability-severe speech delay-mild dysmorphism 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.0

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)

Intellectual disability with language impairment and with or without autistic features; FOXP1 related global developmental delay, intellectual disability and speech defects; FOXP1 syndrome

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting eyelid folds (palpebral fissures), short nose with broad tip, head appearing too large for the body, frontal hair upsweep, bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have been the first to occur in the family (de novo). This condition is caused by changes (mutations) in the FOXP1 gene.[1][2]

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
Expressive language delay
0002474
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Speech articulation difficulties
0009088
30%-79% of people have these symptoms
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect

[ more ]

0001627
Abnormality of refraction
0000539
Anxiety
Excessive, persistent worry and fear
0000739
Autistic behavior
0000729
Brain imaging abnormality
0410263
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose

[ more ]

0000455
Chin with horizontal crease
Chin with horizontal groove
Horizontal chin skin cleft

[ more ]

0011823
Constipation
0002019
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Flexion contracture
Flexed joint that cannot be straightened
0001371
Frontal upsweep of hair
Cowlick
Frontal Cowlick
Upswept frontal hair

[ more ]

0002236
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability, moderate
IQ between 34 and 49
0002342
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Motor delay
0001270
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ more ]

0000194
Oromotor apraxia
0007301
Prominent nasolabial fold
Deep laugh lines
Deep smile lines
Prominent laugh lines
Prominent smile lines

[ more ]

0005272
Ptosis
Drooping upper eyelid
0000508
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Repetitive compulsive behavior
0008762
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Single transverse palmar crease
0000954
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
5%-29% of people have these symptoms
Abnormality of the kidney
Abnormal kidney
0000077
Allergy
0012393
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

0007018
Blepharophimosis
Narrow opening between the eyelids
0000581
Clinodactyly
Permanent curving of the finger
0030084
Decreased serum iron
0040303
Delayed myelination
0012448
Diabetes mellitus
0000819
EEG abnormality
0002353
Hypoplastic helices
0008589
Hypothyroidism
Underactive thyroid
0000821
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Obesity
Having too much body fat
0001513
Overweight
0025502
Prominent fingertip pads
Prominent finger pads
0001212
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Recurrent skin infections
Skin infections, recurrent
0001581
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
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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.
  • 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.

References

  1. Mental retardation with language impairment and with or without autistic features. OMIM. November 20, 2014; https://omim.org/entry/613670. Accessed 7/10/2015.
  2. Le Fevre AK & cols. FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J Med Genet A. December, 2013; 161A(12):3166-75.. https://www.ncbi.nlm.nih.gov/pubmed/24214399. Accessed 7/10/2015.

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