BOD syndrome - Rare Gastroenterology News

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Disease Profile

BOD syndrome

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US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.1

Inheritance

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.

X-linked
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

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

Do you have updated information on this disease? We want to hear from you.

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.

Rare Gastroenterology News

Rare Gastroenterology News

Neonatal

Q87.1

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.

X-linked
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)

Categories

Summary

Symptoms

Learn more

In-Depth Information

References

Rare Gastroenterology News

Rare Gastroenterology News

Neonatal

Q87.1

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.

X-linked 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)

Categories

Summary

Symptoms

Learn more

In-Depth Information

References

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.

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