Rare Infectious Disease News

Disease Profile

Lin-Gettig 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

#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

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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)

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 corpus callosum
0001274
Ambiguous genitalia, male
Ambiguous genitalia in males
0000033
Arnold-Chiari type I malformation
0007099
Autosomal recessive inheritance
0000007
Blepharophimosis
Narrow opening between the eyelids
0000581
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cleft palate
Cleft roof of mouth
0000175
Craniosynostosis
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
Intellectual disability, progressive
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 contracture of the hand
0009473
Long philtrum
0000343
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Malar flattening
Zygomatic flattening
0000272
Micrognathia
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
Ptosis
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
Strabismus
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.