Intellectual disability-severe speech delay-mild dysmorphism syndrome

Rare Oncology News

12501

Rare Oncology News

Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

Q87.0

Inheritance

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.

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.

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

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.

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.

Not applicable

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

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
< 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 Mental retardation with language impairment and with or without autistic features. OMIM. November 20, 2014; https://omim.org/entry/613670. Accessed 7/10/2015. 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. Rare Oncology News Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Oncology News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2023 Rare Oncology News. All Rights Reserved. Privacy Policy \| Terms of Service The Rare Medical Network Rare Cardiology News Rare Dermatology News Rare Endocrinology News Rare Gastroenterology News Rare Hematology News Rare Infectious Disease News Rare Immunology News Rare Nephrology/Urology News Rare Neurology News Rare Oncology News Rare Ophthalmology News Rare Pediatrics News Rare Primary Care News Rare Psychiatry News Rare Pulmonology News Rare Rheumatology News

Rare Oncology News

Rare Oncology News

Infancy

Q87.0

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Learn more

In-Depth Information

References

Rare Oncology News

Rare Oncology News

Infancy

Q87.0

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Learn more

In-Depth Information

References

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.

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