Boylan Dew Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q68.8 | Other specified congenital musculoskeletal deformities |
| ICD-10 online (WHO version 2019) | |
The Boylan-Dew syndrome is a very rare congenital disease with the main features of a arthrogryposis multiplex congenita combined with existing at birth paralysis .. Most leading the disease within a few months of life to death.
Synonyms are: neuropathy, hypomyelinated - arthrogryposis, autosomal recessive; Boylan-Dew Syndrome; English Boylan Dew Greco syndrome
The name refers to the authors of the first description from 1992 by the US doctors Kevin B. Boylan, Donna M. Ferriero, Claudia M. Greco, R. Ann Sheldon and Michael Dew.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
Orphanet links the syndrome to the following entries in Online Mendelian Inheritance in Man (OMIM):
- Syndrome of lethal contractures type 7 , mutations in CNTNAP1 - gene on chromosome 17 locus q21.2
- Syndrome of the lethal contractures type 8 , mutations in the ADCY6 gene on chromosome 12 locus q13.12
- Arthrogryposis multiplex congenita with myelin defect , mutations in the LGI4 gene on chromosome 19 locus q13.12
- Congenital hypomyelinating neuropathy type 3 , mutations in the CNTNAP1 gene on chromosome 17 locus q21.2
Clinical manifestations
Clinical criteria are:
- Manifestation before birth
- decreased or no child movements
- late-onset polyhydramnios
- multiple joint contractures at birth
- Clubfoot
- Pronounced motor paralysis with swallowing disorders , breathing difficulties and a lack of muscle reflexes
- Die within the first three months of life
literature
- B. Kowalczyk, J. Feluś: Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. In: Archives of Medical Science. Volume 12, number 1, February 2016, pp. 10-24, doi: 10.5114 / aoms.2016.57578 , PMID 26925114 , PMC 4754365 (free full text).
Individual evidence
- ↑ a b c Hypomyelination-Neuropathy-Arthrogryposis Syndrome. In: Orphanet (Rare Disease Database).
- ↑ KB Boylan, DM Ferriero u. a .: Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. In: Annals of Neurology. 31, 1992, p. 337, doi: 10.1002 / ana.410310318 .
- ^ Lethal congenital contracture syndrome 7. In: Online Mendelian Inheritance in Man . (English)
- ^ Lethal congenital contracture syndrome 8. In: Online Mendelian Inheritance in Man . (English)
- ^ Arthrogryposis multiplex congenita, neurogenic, with myelin defect. In: Online Mendelian Inheritance in Man . (English)
- ^ Hypomyelinating neuropathy, congenital, 3rd In: Online Mendelian Inheritance in Man . (English)
