Rare Hematology News
Advertisement
Disease Profile
Lin-Gettig syndrome
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.
#N/A
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.
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.
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.
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)
Craniosynostosis-intellectual disability syndrome of Lin and Gettig
Categories
Congenital and Genetic Diseases
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Agenesis of |
0001274 | |
Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
Arnold-Chiari type I malformation | 0007099 | |
0000007 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Cleft roof of mouth
|
0000175 | |
0001363 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased palmar creases |
Shallow palm line
|
0006184 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Feeding difficulties in infancy | 0008872 | |
Glabellar hemangioma | 0001076 | |
Hand clenching |
Clenched hands
|
0001188 |
Hydronephrosis | 0000126 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypertonia | 0001276 | |
Hypoplastic philtrum | 0005326 | |
Hypospadias | 0000047 | |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Inguinal hernia | 0000023 | |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Intestinal malrotation | 0002566 | |
Joint |
0009473 | |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Multiple joint contractures | 0002828 | |
Multiple small bowel atresias | 0004797 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Omphalocele | 0001539 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
Drooping upper eyelid
|
0000508 | |
Sensorineural hearing impairment | 0000407 | |
Short columella | 0002000 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ] |
0001238 |
Smooth philtrum | 0000319 | |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Supernumerary nipple |
Accessory nipple
|
0002558 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ] |
0000243 |
Turricephaly |
Tall shaped skull
Tower skull shape
[ more ] |
0000262 |
Umbilical hernia | 0001537 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Vesicoureteral reflux | 0000076 | |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Lin-Gettig syndrome. Click on the link to view a sample search on this topic.