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  3. Lin-Gettig syndrome
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Lin-Gettig syndrome


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Other Names:
Craniosynostosis-intellectual disability syndrome of Lin and Gettig
Categories:
Congenital and Genetic Diseases

Symptoms Symptoms


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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.

Showing of 57 |
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
Showing of 57 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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