Management Guidelines
No clinical practice guidelines for 3-M syndrome have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease in an individual diagnosed with 3-M syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 3.
3-M Syndrome: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Musculoskeletal
| Physical exam to assess for joint hypermobility, kyphoscoliosis, hip dysplasia/dislocation | • Hip US in infancy or hip radiographs in older children may be helpful.
Refer to orthopedist if hip dysplasia/dislocation or scoliosis is identified.
Endocrine
| Physical exam to assess for hypospadias |
Refer to pediatric endocrinologist to assess for:
Gonadal function in pubertal males by physical exam serum concentrations of FSH, LH, testosterone;
GH deficiency /or GH insensitivity.
|
Genetic counseling
| By genetics professionals1 | To obtain a pedigree inform affected persons their families re nature, MOI, implications of 3-M syndrome to facilitate medical personal decision making
FSH = follicle-stimulating hormone; GH = growth hormone; LH = luteinizing hormone; MOI = mode of inheritance; US = ultrasound
Source: GeneReviews — "3-M Syndrome"
