Rare Hematology News

Disease Profile

BOD syndrome

Prevalence
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

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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

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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.

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Not applicable

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Other names (AKA)

Brachymorphism-onychodysplasia-dysphalangism syndrome; Brachymorphism onychodysplasia dysphalangism syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.[1]

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
Brachydactyly
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
Microcephaly
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
Short stature
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
Strabismus
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
Intellectual disability, mild
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
Autosomal dominant inheritance
0000006
Congenital cystic adenomatoid malformation of the lung
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

  1. 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.