BOD syndrome

Classification according to ICD-10
Q87.1	Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The BOD syndrome , acronym for B rachymorphie / O nychodysplasie / D ysphalangie, is a very rare congenital disease with the main features of a Kurzgliedrigkeit, dysplasia of the finger and toe nails and a malformation of finger and toe bones .

The term senior syndrome is also used as a synonym .

This designation refers to the first author of the first description from 1971 by the South African pediatrician Boris Senior .

distribution

The frequency is given as less than 1 in 1,000,000; around a dozen patients have been described to date. The inheritance is autosomal dominant .

The cause is not yet known.

Clinical manifestations

Clinical criteria are:

• proportional intrauterine growth retardation , short stature
• hypoplastic little fingers with brachymesophalangia and tiny fingernails , nail dystrophy
• Facial dysmorphisms such as wide nose , flat cheeks , large mouth , pointed chin, and retrognathy
• mostly also microcephaly without (substantial) intellectual disability

diagnosis

In the diagnostic imaging can be found:

• Hypo- , aplasia, or syndactyly of the distal phalanges in the fifth ray
• Brachymesophalangia of the little toe
• Nail hypoplasia or aplasia
• sometimes a cystic adenomatoid malformation of the lungs

Differential diagnosis

This syndrome may be just a mild form of Coffin-Siris syndrome . Due to the significantly lower mental retardation , it is viewed as an independent clinical picture.

Individual evidence

1. ↑ ^{a b c d} Brachymorphism - Onychodysplasia - Dysphalangia. In: Orphanet (Rare Disease Database).
2. ↑ Who named it
3. ↑ B. Senior: Impaired growth and onychodysplasia. Short children with tiny toenails. In: American Journal of Diseases of Children (1960). Vol. 122, No. 1, July 1971, pp. 7-9, PMID 5567413 .
4. ↑ ^{a b c} A. Verloes, D. Bonneau, O. Guidi, M. Berthier, D. Oriot, L. Van Maldergem, L. Koulischer: Brachymorphism-onychodysplasia-dysphalangism syndrome. In: Journal of medical genetics. Vol. 30, No. 2, February 1993, pp. 158-161, PMID 8445623 , PMC 1016276 (free full text).
5. ^ CP García Blanes, P. Rodríguez-Cantón Pascual, L. Martínez Casimiro, JJ Alcón Sáez, MI Febrer Bosch: Síndrome de BOD. In: Anales de pediatría (Barcelona, ​​Spain: 2003). Vol. 79, No. 5, November 2013, pp. 333-334, doi: 10.1016 / j.anpedi.2012.11.005 , PMID 23384652

Web links

• BOD syndrome.  In: Online Mendelian Inheritance in Man . (English)
• Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !