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Disease Profile

Heart defect-tongue hamartoma-polysyndactyly 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

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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)

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

Categories

Congenital and Genetic Diseases

Summary

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

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.

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