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Congenital malformation syndrome

Also known as Dysmorphism, Congenital Anomaly, Congenital Abnormality, and Congenital Malformation

Dysmorphic feature is a medical term referring to a difference of body structure that is suggestive of a congenital disorder, genetic syndrome, or birth defect. A dysmorphic feature can be a minor and isolated birth defect (e.g., clinodactyly, not accompanied by other features or problems). Alternatively it can be one of a combination of features signaling a serious multi-system syndrome (e.g., the epicanthal folds of Down's syndrome). Another example would be sparse eyebrows, which are indicative of cardiofaciocutaneous syndrome, also known as CFC.

Source: Wikipedia

What are the symptoms?

Within all the people who go to their doctor with congenital malformation syndrome, 39% report having lack of growth, 31% report having seizures, and 15% report having gum pain. The symptoms that are highly suggestive of congenital malformation syndrome are lack of growth, gum pain, leg stiffness or tightness, symptoms of the kidneys, and difficulty eating, although you may still have congenital malformation syndrome without those symptoms.


What might my doctor prescribe?

Common Tests and Procedures

Patients with congenital malformation syndrome often receive complete physical skin exam performed (ml), other diagnostic procedures (interview; evaluation; consultation), occupational therapy assessment, physical therapy exercises, examination of foot, other therapeutic ear procedures, psychological and psychiatric evaluation and therapy and ophthalmologic and otologic diagnosis and treatment .

Common Medications

The most commonly prescribed drugs for patients with congenital malformation syndrome include fentanyl, chlorhexidine topical, propofol, hydrocodone, dexamethasone topical product, ketamine, divalproex sodium (depakote), budesonide, somatropin, tobramycin (tobi), sevelamer (renvela), cyproheptadine and guanfacine (intuniv) .

Who is at risk?

Groups of people at highest risk for congenital malformation syndrome include race/ethnicity = other, age 5-14 years, age 1-4 years and age < 1 years.

Age

< 1 years
1.6x
1-4 years
4.7x
5-14 years
3.4x
15-29 years
1.2x
30-44 years
0.2x
45-59 years
0.2x
60-74 years
0.3x
75+ years
0.3x

Sex

Male
1.3x
Female
0.8x

Race/Ethnicity

Black
0.6x
Hispanic
0.9x
White
1.1x
Other
2.1x
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