Rare Dermatology News
Disease Profile
BOD 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.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
Q87.1
Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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)
Brachymorphism-onychodysplasia-dysphalangism syndrome; Brachymorphism onychodysplasia dysphalangism syndrome
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
BOD
Symptoms
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:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Absent fingernail | 0001817 | |
| Absent toenail | 0001802 | |
|
Short fingers or toes
|
0001156 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Fingernail dysplasia |
Abnormal fingernail development
|
0100798 |
| Hypoplastic fifth fingernail |
Underdeveloped fifth fingernail
Underdeveloped fingernail of little finger
Underdeveloped fingernail of pinkie finger
Underdeveloped fingernail of pinky finger
[ more ] |
0008398 |
| Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
| Long philtrum | 0000343 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Short distal phalanx of toe |
Short outermost bone of toe
|
0001857 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Toenail dysplasia |
Abnormal toenail development
|
0100797 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
| 30%-79% of people have these symptoms | ||
| Biparietal narrowing | 0004422 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Frontal bossing | 0002007 | |
| High forehead | 0000348 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
| Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
| 5%-29% of people have these symptoms | ||
| Abnormal mitral valve morphology | 0001633 | |
| Abnormality of the respiratory system | 0002086 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| High anterior hairline |
High frontal hairline
|
0009890 |
| Inguinal hernia | 0000023 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Anonychia |
Absent nails
Aplastic nails
[ more ] |
0001798 |
| 0000006 | ||
| 0010959 | ||
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Short distal phalanx of the 5th finger |
Short outermost little finger bone
Short outermost pinkie finger bone
Short outermost pinky finger bone
[ more ] |
0004227 |
| Short middle phalanx of the 5th finger |
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ] |
0004220 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
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 BOD syndrome. Click on the link to view a sample search on this topic.
References
- Brautbar A, Ragsdale J, Shinawi M. Is this the Coffin–Siris syndrome or the BOD syndrome?. Am J Med Genet Part A . 2009;149A:559–562; https://www.ncbi.nlm.nih.gov/pubmed/19215055. Accessed 9/13/2013.