Heart defect-tongue hamartoma-polysyndactyly syndrome

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Disease Profile

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US Estimated

Europe Estimated

Age of onset

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ICD-10

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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)

Ostravik-Lindemann-Solberg syndrome; Congenital heart defects, hamartomas of tongue, and polysyndactyly; Orstavik Lindemann Solberg syndrome

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1338

Definition

A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.

Visit the Orphanet disease page for more resources.

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
Abnormal enzyme/coenzyme activity		0012379
Camptodactyly of finger	Permanent flexion of the finger	0100490
Coarse facial features	Coarse facial appearance	0000280
Dermatan sulfate excretion in urine		0008301
Hamartoma of tongue		0011802
Heparan sulfate excretion in urine		0002159
Limitation of joint mobility	Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ]	0001376
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Muscle weakness	Muscular weakness	0001324
Patent ductus arteriosus		0001643
Short stature	Decreased body height Small stature [ more ]	0004322
Subvalvular aortic stenosis	Narrowing of blood vessel below aortic heart valve	0001682
30%-79% of people have these symptoms
2-3 finger syndactyly	Webbed 2nd-3rd fingers	0001233
Abnormality of dental morphology	Abnormality of dental shape Abnormally shaped teeth Deformity of teeth Dental deformity Dental malformations Malformed teeth Misshapen teeth Misshapened teeth [ more ]	0006482
Benign neoplasm of the central nervous system		0100835
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Enlarged tonsils		0030812
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Gingival overgrowth	Gum enlargement	0000212
Global developmental delay		0001263
Heart murmur	Heart murmurs	0030148
Hoarse voice	Hoarseness Husky voice [ more ]	0001609
Increased size of nasopharyngeal adenoids		0040261
Inguinal hernia		0000023
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Mental deterioration	Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ]	0001268
Prominent supraorbital ridges	Prominent brow	0000336
Recurrent ear infections	Frequent ear infections	0410018
Recurrent upper respiratory tract infections	Recurrent colds	0002788
Sleep apnea	Pauses in breathing while sleeping	0010535
Umbilical hernia		0001537
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445
5%-29% of people have these symptoms
Abnormal aortic morphology		0001679
Abnormal foveal morphology		0000493
Abnormal mitral valve morphology		0001633
Abnormal pulmonary valve morphology		0001641
Abnormal tricuspid valve morphology		0001702
Abnormal uvea morphology		0000553
Abnormal vertebral morphology		0003468
Abnormality of retinal pigmentation		0007703
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Arthritis	Joint inflammation	0001369
Cardiomyopathy	Disease of the heart muscle	0001638
Chronic diarrhea		0002028
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Constrictive median neuropathy		0012185
Corneal opacity		0007957
Decreased lightand dark-adapted electroretinogram amplitude		0000654
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Diaphyseal thickening	Thickening of shaft or central part of long bones	0005019
Hepatosplenomegaly	Enlarged liver and spleen	0001433
Hip dysplasia		0001385
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypertension		0000822
Impaired mastication	Chewing difficulties Chewing difficulty Difficulty chewing [ more ]	0005216
Localized skin lesion		0011355
Nyctalopia	Night blindness Night-b 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. PubMed is a searchable database of medical literature and lists journal articles that discuss Heart defect-tongue hamartoma-polysyndactyly syndrome. Click on the link to view a sample search on this topic. Rare Psychiatry 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 Psychiatry 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 Psychiatry 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

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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

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#N/A

#N/A

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

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.