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

Fallot complex with severe mental and growth retardation



Other Names:
Bindewald Ulmer Muller syndrome
Categories:

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

Orpha Number: 3304

Definition
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.

Epidemiology
To date, five patients have been reported in two families.

Clinical description
Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of 2nd and 3rd toes have also been recorded. All five patients have severe intellectual deficiency.

Genetic counseling
The condition is probably hereditary, and is transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2010

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
Intellectual disability, profound
IQ less than 20
0002187
Protruding ear
Prominent ear
Prominent ears
[ more ]
0000411
Severe failure to thrive
Severe faltering weight
Severe weight faltering
[ more ]
0001525
30%-79% of people have these symptoms
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
Hole in heart wall separating two upper heart chambers
[ more ]
0001631
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Double outlet right ventricle 0001719
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Frontal hirsutism
Hairy forehead
0011335
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Macrotia
Large ears
0000400
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Severe global developmental delay 0011344
Single transverse palmar crease 0000954
Tetralogy of Fallot 0001636
5%-29% of people have these symptoms
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
0100759
Clubbing of toes 0100760
Cyanosis
Blue discoloration of the skin
0000961
High forehead 0000348
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Hypoplastic nasal tip
Decreased size of nasal tip
Decreased size of tip of nose
Small nasal tip
Small tip of nose
Underdevelopment of nasal tip
Underdevelopment of tip of nose
[ more ]
0005278
Opisthotonus 0002179
Overriding aorta 0002623
Patent ductus arteriosus 0001643
Persistent left superior vena cava 0005301
Recurrent otitis media
Recurrent middle ear infection
0000403
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Thin upper lip vermilion
Thin upper lip
0000219
Unilateral ptosis
Dropping of one upper eyelid
0007687
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
Abnormality of the face
Abnormal face
Facial abnormality
[ more ]
0000271
Autosomal recessive inheritance 0000007
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
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 Fallot complex with severe mental and growth retardation. Click on the link to view a sample search on this topic.

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