Multiple synostosis syndrome
Classification according to ICD-10 | |
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Q78.8 | Other specified osteochondrodysplasias |
ICD-10 online (WHO version 2019) |
The syndrome of multiple synostoses (SYNS) is a very rare congenital dysplasia of the connective tissue with the main features facial dysmorphism , deafness and premature ankylosis ( synostosis ) of the joints , especially of the hand and foot .
Synonyms are: Facio-audio-Symphalangie; Hearing loss - symphalangia syndrome, Hermann type; Symphalangia - brachydactyly; WL syndrome; Symphalangism-brachydactyly syndrome; Cushing-type proximal symphalangia; Proximal symphalangia type Kirmisson; WL symphalangism brachydactyly syndrome; Facioaudiosymphalangism Syndrome; Pearlman-Nieverdelt Syndrome
The first description comes from 1900 by the radiologist Georg Joachimsthal (quoted in Leiber)
distribution
The frequency is given as less than 1 in 1,000,000, so far about 20 families have been reported. The inheritance is autosomal dominant .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- SYNS1 with mutations in NOG - gene on chromosome 17 locus q22
- SYNS2 with mutations in the GDF5 gene on chromosome 20 locus q11.22
- SYNS3 with mutations in the FGF9 gene on chromosome 13 locus q12.11
- SYNS4 with mutations in the GDF6 gene on chromosome 8 locus q22.1
Clinical manifestations
Clinical criteria are:
- Special face shape: long, narrow face, broad cylindrical nose, narrow upper lip
- Conductive hearing loss due to otosclerosis
- Brachydactyly , hypoplastic nails , abnormal papillary ridges
- Restricted finger mobility, symphalangism of the 2nd to 4th fingers with (incomplete) fusion, hypo- or aplasia of the middle phalanges , clinodactyly , brachydactyly , shortening of the first metacarpal bone
- Synostoses of the cervical spine and of the humerus and radius in childhood
treatment
The removal of the stapes can be used surgically against the hearing loss due to otosclerosis .
history
By Harvey Cushing description dates back to 1916, by WG Fuhrmann and employees from 1966
An assignment by HJ Dubois from 1970 as "Pearlman-Nieverdelt syndrome" has not been confirmed.
The term "multiple synostoses" was coined in 1972 by Pierre Maroteaux .
The term "WL syndrome" suggested by J. Herrmann has not been able to establish itself.
literature
- BH Lee, OH Kim, HK Yoon, JM Kim, K. Park, HW Yoo: Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations. In: Joint, bone, spine: revue du rhumatisme. Volume 81, number 6, December 2014, pp. 533-536, doi: 10.1016 / j.jbspin.2014.07.006 . PMID 25241334 .
- H. Hachimi, L. Tahiri, N. Ghani, K. Ouldim, T. Harzy: Multiple synostosis syndrome. In: Joint, bone, spine: revue du rhumatisme. Volume 79, number 2, March 2012, p. 198, doi: 10.1016 / j.jbspin.2011.07.012 . PMID 22169575 .
- JA Joseph, T. Pillinger, PM Pretorius, P. Martinez-Devesa: Congenital conductive hearing loss and multiple synostosis syndrome with analysis of temporal bone CT scan findings. In: International journal of pediatric otorhinolaryngology. Volume 74, number 12, December 2010, pp. 1438-1440, doi: 10.1016 / j.ijporl.2010.09.001 . PMID 20870298 .
- P. Maroteaux, JP Bouvet, Briard, ML La maladie des synostoses multiples. Nouv. Presse Med. 1, 1972, pp. 3041-3047. [PubMed: 4648959, related citations]
Web links
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d Multiple synostoses. In: Orphanet (Rare Disease Database).
- ↑ G. Joachimsthal: The congenital deformations of the upper extremities. In: RöFo supplementary volume 2 (1900).
- ↑ Multiple synostoses syndrome 1. In: Online Mendelian Inheritance in Man . (English)
- ↑ Multiple syndrome 2. synostoses In: Online Mendelian Inheritance in Man . (English)
- ↑ Multiple syndrome 3. synostoses In: Online Mendelian Inheritance in Man . (English)
- ↑ Multiple syndrome 4. synostoses In: Online Mendelian Inheritance in Man . (English)
- ↑ J. Wang, T. Yu, Z. Wang, S. Ohte, RE Yao, Z. Zheng, J. Geng, H. Cai, Y. Ge, Y. Li, Y. Xu, Q. Zhang, JF Gusella , Q. Fu, S. Pregizer, V. Rosen, Y. Shen: A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. In: Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research. Volume 31, Number 4, April 2016, pp. 882-889, doi: 10.1002 / jbmr.2761 . PMID 26643732 , PMC 5268166 (free full text).
- ↑ H. Cushing: Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism). In: Genetics. Volume 1, Number 1, January 1916, pp. 90-106. PMID 17245852 , PMC 1193655 (free full text).
- ↑ W. Fuhrmann, C. Steffens: Dominant hereditary bilateral dysplasia and synostosis of the elbow joint with symmetrical brachymesophalangia and brachymetacarpy as well as synostoses in the finger, wrist and tarsal area. In: Human Genetics. Volume 3, Number 1, 1966, pp. 64-75. PMID 5986056 .
- ^ HJ Dubois: Nievergelt-Pearlman syndrome. Synostosis in feet and hands with dysplasia of elbows. Report of a case. In: The Journal of bone and joint surgery. British volume. Volume 52, Number 2, May 1970, pp. 325-329. PMID 5445413 .
- ↑ P. Maroteaux, JP Bouvet, ML Briard: La maladie des synosthoses multiples. In: La Nouvelle presse medicale. Volume 1, Number 45, December 1972, pp. 3041-3047. PMID 4648959
- ↑ J. Herrmann: Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. In: Birth Defects Original Article Series. Volume X, No. 5,% S. 23-53, 1974.