National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Genito palato cardiac syndrome



Other Names:
Gardner-Silengo-Wachtel syndrome; Genito-palato-cardiac syndrome; Genitopalatocardiac syndrome
Categories:

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

Orpha Number: 2075

Definition
Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2018

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal cardiac septum morphology 0001671
Cleft palate
Cleft roof of mouth
0000175
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Male pseudohermaphroditism 0000037
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Non-midline cleft lip 0100335
30%-79% of people have these symptoms
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Gonadal dysgenesis, male 0008668
Hypospadias 0000047
5%-29% of people have these symptoms
Abnormality of mesentery morphology 0100016
Abnormality of the gallbladder 0005264
Brachydactyly
Short fingers or toes
0001156
Congenital diaphragmatic hernia 0000776
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ]
0002714
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Kyphosis
Hunched back
Round back
[ more ]
0002808
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Multicystic kidney dysplasia 0000003
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
0001162
Scoliosis 0002650
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
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Cleft upper lip
Harelip
0000204
Double outlet right ventricle 0001719
Renal cyst
Kidney cyst
0000107
Right aortic arch 0012020
Transposition of the great arteries 0001669
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020

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


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 Genito palato cardiac syndrome. Click on the link to view a sample search on this topic.

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