Cleft palate, cardiac defects, and intellectual disability

Title

Other Names:

MEIS2 haploinsufficiency; MEIS2 mutations

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
2-3 toe syndactyly	Webbed 2nd and 3rd toes	0004691
Atrial septal defect	An opening in the wall separating the top two chambers of the heart	0001631
Autistic behavior		0000729
Autosomal dominant inheritance		0000006
Broad hallux	Broad big toe Wide big toe [ more ]	0010055
Broad thumb	Broad thumbs Wide/broad thumb [ more ]	0011304
Cleft palate		0000175
Cleft upper lip	Harelip	0000204
Coarctation of aorta	Narrowing of aorta Narrowing of the aorta [ more ]	0001680
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Global developmental delay		0001263
High anterior hairline	High frontal hairline	0009890
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Large forehead	Increased size of forehead	0002003
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Narrow forehead	Decreased width of the forehead	0000341
Sandal gap	Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ]	0001852
Short 2nd finger	Short index finger Short index fingers [ more ]	0009536
Short 5th finger	Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ]	0009237
Short stature	Decreased body height Small stature [ more ]	0004322
Sparse eyebrow	Sparse eyebrows	0045075
Tented upper lip vermilion		0010804
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Ventricular septal defect		0001629

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Last updated: 9/1/2018

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Learn More 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

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.

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