Multiple synostosis syndrome

Classification according to ICD-10
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.

[Leiber-1] 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 .

[Orpha-2] Multiple synostoses. In: Orphanet (Rare Disease Database).

[3] G. Joachimsthal: The congenital deformations of the upper extremities. In: RöFo supplementary volume 2 (1900).

[4] Multiple synostoses syndrome 1. In: Online Mendelian Inheritance in Man . (English)

[5] Multiple syndrome 2. synostoses In: Online Mendelian Inheritance in Man . (English)

[6] Multiple syndrome 3. synostoses In: Online Mendelian Inheritance in Man . (English)

[7] Multiple syndrome 4. synostoses In: Online Mendelian Inheritance in Man . (English)

[8] 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).

[9] 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).

[10] 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 .

[11] 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 .

[12] 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

[13] 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.