Fallot complex with severe mental and growth retardation
Alternate names
Bindewald Ulmer Muller syndrome
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.
Inheritance
The condition is probably hereditary, and is transmitted as an autosomal recessive trait.
Signs and symptoms
- 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.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Intellectual disability, profound(IQ less than 20)
- Protruding ear(Prominent ear)
- Severe failure to thrive(Severe faltering weight)
30%-79% of people have these symptoms
- 2-3 toe syndactyly(Webbed 2nd and 3rd toes)
- Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
- Cryptorchidism(Undescended testes)
- Double outlet right ventricle
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- Frontal hirsutism(Hairy forehead)
- High palate(Elevated palate)
- Macrotia(Large ears)
- Microcephaly(Abnormally small skull)
- Micrognathia(Little lower jaw)
- Pulmonic stenosis(Narrowing of pulmonic valve)
- Severe global developmental delay
- Single transverse palmar crease
- Tetralogy of Fallot
5%-29% of people have these symptoms
- Clubbing of fingers(Clubbed fingers)
- Clubbing of toes
- Cyanosis(Blue discoloration of the skin)
- High forehead
- Hypertelorism(Wide-set eyes)
- Hypoplastic nasal tip(Decreased size of nasal tip)
- Opisthotonus
- Overriding aorta
- Patent ductus arteriosus
- Persistent left superior vena cava
- Recurrent otitis media(Recurrent middle ear infection)
- Strabismus(Cross-eyed)
- Thin upper lip vermilion(Thin upper lip)
- Unilateral ptosis(Dropping of one upper eyelid)
- Wide nasal bridge(Broad nasal bridge)
Diagnosis
Treatment
NIH genetic and rare disease info
Fallot complex with severe mental and growth retardation is a rare disease.
Resources
Frequently asked questions
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