Trismus-pseudocamptylodactyly syndrome

Classification according to ICD-10
M24.5	Joint contracture
Q68.1	Congenital deformity of the hand
ICD-10 online (WHO version 2019)

The trismus-Pseudokamptylodaktylie syndrome also Hecht syndrome or Dutch-Kentucky syndrome is called a congenital disease with a combination of restriction of the mouth ( lockjaw ) and flexion contractures of the fingers when stretched hand.

Synonyms are: Distal arthrogryposis type 7

The name of the disease refers to the first person who described it in 1969, Frederic Hecht and Rodney Kenneth Beals .

The common name was coined in 1974 by the US doctor Charlotte Connick Mabry .

clinic

Clinical criteria are:

Limitation of the mouth opening to about 80%, relatively small mouth
Changes in the coronoid process of the lower jaw
Facial dysmorphism , ptosis , auricular dysplasia
Shortened flexor tendons of the fingers with isolated contracture when the hand is extended
Ulnar deviation in the wrist

distribution

The frequency is estimated at 1 in 100,000.

root cause

The disease is inherited in an autosomal dominant manner .

Differential diagnosis

The congenital contractural arachnodactyly is to be distinguished .

literature

R. Carlos, E. Contreras, J. Cabrera: Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. In: Oral diseases. Volume 11, Number 3, May 2005, pp. 186-189, ISSN 1354-523X . doi: 10.1111 / j.1601-0825.2005.01005.x . PMID 15888111 . (Review).
P. Fehlow: Association of congenital contractural arachnodactyly (Beals-Hecht syndrome) and Brown syndrome. In: Clinical monthly sheets for ophthalmology. Volume 222, Number 5, May 2005, pp. 440-443, ISSN 0023-2165 . doi: 10.1055 / s-2005-858087 . PMID 15912465 .

Individual evidence

↑ Trismus-Pseudocamptylodactyly Syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ M. Bamshad, LB Jorde, JC Carey: A revised and extended classification of the distal arthrogryposes. In: American journal of medical genetics. Volume 65, Number 4, November 1996, pp. 277-281, ISSN 0148-7299 . doi : 10.1002 / (SICI) 1096-8628 (19961111) 65: 4 <277 :: AID-AJMG6> 3.0.CO; 2-M . PMID 8923935 . (Review).
↑ F. Hecht, RK Beals: Inability to open the mouth fully: an autosomal dominant phenotype with facultative camptodactyly and short stature. 1969 in: Birth defects original article series. V (3): pp. 96-98
^ CC Mabry, IS Barnett, MW Hutcheson, HW Sorenson: Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. In: The Journal of pediatrics. Volume 85, Number 4, October 1974, pp. 503-508, ISSN 0022-3476 . PMID 4443857 .
↑ ^a ^b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9

[OMIM-1] Trismus-Pseudocamptylodactyly Syndrome. In: Online Mendelian Inheritance in Man . (English)

[2] M. Bamshad, LB Jorde, JC Carey: A revised and extended classification of the distal arthrogryposes. In: American journal of medical genetics. Volume 65, Number 4, November 1996, pp. 277-281, ISSN 0148-7299 . doi : 10.1002 / (SICI) 1096-8628 (19961111) 65: 4 <277 :: AID-AJMG6> 3.0.CO; 2-M . PMID 8923935 . (Review).

[3] F. Hecht, RK Beals: Inability to open the mouth fully: an autosomal dominant phenotype with facultative camptodactyly and short stature. 1969 in: Birth defects original article series. V (3): pp. 96-98

[4] CC Mabry, IS Barnett, MW Hutcheson, HW Sorenson: Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. In: The Journal of pediatrics. Volume 85, Number 4, October 1974, pp. 503-508, ISSN 0022-3476 . PMID 4443857 .

[Leiber-5] B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9