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Disease Profile

Odontotrichomelic syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Odontotrichomelic hypohidrotic dysplasia; Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities; Freire-Maia syndrome;


Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;


Odontotrichomelic syndrome is a very rare ectodermal dysplasia affecting the hair, teeth, and nails and all four extremities.[1][2] The main problems are malformations of all the extremities including absence of several bones in the hands and feet, abnormal teeth, and sparse hair (hypotrichosis). Other signs and symptoms may include: very small or undeveloped (hypoplastic) nails; abnormalities of the ear; excessive sweating (hyperhidrosis); an unusual facial appearance with malformed ears, large nose, high forehead, and protruding lips; as well as a flat head, long neck, and sloping shoulders with dimples on top. The cause is unknown. Inheritance is autosomal recessive.[1][3][2] Because very few people have been described, there is no information about specific treatment.[2]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

Abnormality of the neck
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

High urine amino acid levels
Increased levels of animo acids in urine

[ more ]

Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

Autosomal recessive inheritance
Cleft upper lip
Ectodermal dysplasia
EEG abnormality
Decreased activity of gonads
Hypoplastic areola
Hypoplastic nipples
Small nipples
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific

[ more ]

Nasolacrimal duct obstruction
Blocked tear duct
Small nail
Small nails
Sparse hair

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Odontotrichomelic syndrome. Click on the link to view a sample search on this topic.


  1. Pavone L, Rizzo R, Tiné A, Micali G, Sorge G & Neri G. A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome. Am J Med Genet. 1989; 33(2):190-3. https://www.ncbi.nlm.nih.gov/pubmed/2764029.
  2. Odontotrichomelic syndrome. Orphanet. 2018; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2484.
  3. Zankl A, Scheffer H & Schinzel A. Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?. Am J Med Genet A. May 15, 2004; 127A(1):74-80.. https://www.ncbi.nlm.nih.gov/pubmed/15103722.