National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Odontotrichomelic syndrome

Información en español


Other Names:
Odontotrichomelic hypohidrotic dysplasia; Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities; Freire-Maia syndrome; Odontotrichomelic hypohidrotic dysplasia; Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities; Freire-Maia syndrome; Freire-Maia odontotrichomelic syndrome See More
Categories:
This disease is grouped under:
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]  
Last updated: 1/9/2018

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.

Showing of 17 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Abnormality of the neck 0000464
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] 		0000377
Aminoaciduria
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] 		0003355
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Autosomal recessive inheritance 0000007
Cleft upper lip
Harelip
0000204
Ectodermal dysplasia 0000968
EEG abnormality 0002353
Hypogonadism
Decreased activity of gonads
0000135
Hypoplastic areola 0100853
Hypoplastic nipples
Small nipples
0002557
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Nasolacrimal duct obstruction
Blocked tear duct
0000579
Small nail
Small nails
0001792
Sparse hair 0008070
Tetraamelia 0003057
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Last updated: 7/1/2020

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.

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  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; http://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.