BOD syndrome

Alternate names

Brachymorphism-onychodysplasia-dysphalangism syndrome; Brachymorphism onychodysplasia dysphalangism syndrome

Definition

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.

Cause

The cause of the condition is not known.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

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

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Absent fingernail
• Absent toenail
• Brachydactyly(Short fingers or toes)
• Delayed skeletal maturation(Delayed bone maturation)
• Fingernail dysplasia(Abnormal fingernail development)
• Hypoplastic fifth fingernail(Underdeveloped fifth fingernail)
• Hypoplastic toenails(Underdeveloped toenails)
• Long philtrum
• Microcephaly(Abnormally small skull)
• Short distal phalanx of toe(Short outermost bone of toe)
• Short stature(Decreased body height)
• Toenail dysplasia(Abnormal toenail development)
• Wide nasal bridge(Broad nasal bridge)

30%-79% of people have these symptoms

• Biparietal narrowing
• Epicanthus(Eye folds)
• Frontal bossing
• High forehead
• Intrauterine growth retardation(Prenatal growth deficiency)
• Malar flattening(Zygomatic flattening)
• Pointed chin(Pointy chin)
• Prominent nose(Big nose)
• Strabismus(Cross-eyed)
• Triangular face(Face with broad temples and narrow chin)
• Wide mouth(Broad mouth)

5%-29% of people have these symptoms

• Abnormal mitral valve morphology
• Abnormality of the respiratory system
• Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
• Brachycephaly(Short and broad skull)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Coarse facial features(Coarse facial appearance)
• Generalized hirsutism(Excessive hairiness over body)
• High anterior hairline(High frontal hairline)
• Inguinal hernia
• Intellectual disability, mild(Mental retardation, borderline-mild)
• Symphalangism affecting the phalanges of the hand(Fused finger bones of the hand)
• Thick eyebrow(Bushy eyebrows)
• Umbilical hernia

NIH genetic and rare disease info

• NIH info on BOD syndrome

BOD syndrome is a rare disease.

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