Management Guidelines
No clinical practice guidelines for FREM1 autosomal recessive disorders 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 and needs in an individual diagnosed with a FREM1 autosomal recessive disorder, the evaluations summarized in , , or (depending on the phenotype), if not performed as part of the evaluation that led to the diagnosis, are recommended.
Table 3.
MOTA Syndrome: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Ocular
| Ophthalmologic eval | For coloboma /or keratopathy
ENT | Eval for bifid nose/ notched ala nasi | Referral to plastic surgeon as needed
Gastrointestinal
| Eval for anal anomalies, omphalocele, /or umbilical hernia | Referral to surgeon if present
Kidneys
| Kidney imaging, kidney functional analysis | For kidney malformation function
Genetic counseling
| By genetics professionals1 | To obtain a pedigree inform affected persons their families re nature, MOI, implications of MOTA syndrome to facilitate medical personal decision making
MOI = mode of inheritance; MOTA = Manitoba oculotrichoanal
1. Clinical geneticist, certified genetic counselor, certified genetic nurse, genetics advanced practice provider (nurse practitioner or physician assistant)
Table 4.
BNAR Syndrome: Recommended Evaluations Following Initial Diagnosis
Source: GeneReviews — "FREM1 Autosomal Recessive Disorders"
