Freire-Maia Syndrome:

There is no disease so rare that it does not deserve attention

Alternate Names:
Freire-Maia Syndrome is classified as both an odontotrichomelic syndrome and an
ectodermal dysplasia syndrome. This classification comprises an expansive group of
pathologies characterized by anomalies of the ectoderm and its derivatives.

What is Freire-Maia Syndrome?

Freire-Maia Syndrome is a congential disorder marked by an abnormality in at least one of
these ectodermal structures: hair, teeth, nails or sweat glands. In addition, other affected
structures can include: mammary glands, thyroid gland, thymus, anterior pituitary,
adrenal medulla, CNS, external ear, melanocytes, cornea, conjunctiva, lacrimal duct, and
meibomian glands.

Etiology:
Freire-Maia Syndrome is an autosomal recessive condition that manifests itself in prenatal
development. This means that each parent has passed on a mutated recessive gene to the
affected individual. Unfortunately, this syndrome is often misdiagnosed due to the key
ectodermal identification signs not always being the most obvious defect.

Prevalence:
Freire-Maia Syndrome is recorded in less than 1 in 1,000,000 individuals.

Primary Features/Characteristics:

Ear and nail anomalies

Limb malformations
Sparse hair coverage
Enlarged thyroid glands

Other Associated Features:

Clefting of the lip

Missing teeth
Missing bones in the hands and/or feet
Occlusion of the outer ear canal
Dermatological complications
Blocked tear ducts
Increased sweating

Treatment:
Due to the low rate of prevalence, and variability of each case, there is currently no onesize-fits-all treatment that patients can undergo. Some of the symptoms attributed to

Friere-Maia Syndrome can be managed by specialized medical care or surgical procedures,

but there is no medical recourse to combat the disease itself.

Potential Impact:
The potential impacts of Friere-Maia Syndrome are extremely varied depending on the
affected individuals specific case, thus the severity of these impacts will vary.
Possible inability to achieve bilabial seal due to clefting of the lip can affect
communication due to abnormal airflow, which will ultimately impact speech
sounds. This can also affect feeding and swallowing.
Communication, feeding, and swallowing can also be affected due to possible
missing teeth.
Because of the defects in genetic materials, cognition and learning can be
directly affected.
Due to ear anomalies and a possible occluded ear canal, hearing can be
impaired.

Professional Considerations:
As a professional, this syndrome needs to be approached with an open mind as each case is
different and often unrelated to one another. Because of this, the individuals specific
condition, assessment, treatment, limitations, specific needs, behavioral characteristics,
external impacts, and psychsocial considerations should all be carefully assessed and
determined at the doctor and his teams discretion. Depending on specific structures
affected in various cases of Friere-Maia Syndrome, each team should include a variety of
members to properly and maximally assess and treat. This can include: an orthodontist,
dentist, speech pathologist, plastic surgeon, audiologist, ENT, OT, nutritionist, etc.
References:
Pavone, L., & Rizzo, R. (1989, June 2). A case of the Freire-Maia Odontotrichomelic
syndrome: Nosology with EEC syndrome. Retrieved from
http://www.ncbi.nlm.nih.gov/pubmed/2764029
Visinoni F, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. 2009. Ectodermal
dysplasias: Clinical and molecular review. Am J Med Genet Part A
149A:19802002.