Myhre Syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Myhre syndrome is a very rare genetic disease with a combination of short stature , muscular physique, Disabilities, hearing loss and mental retardation .

Synonyms are: LAPS syndrome (laryngotracheal stenosis), arthropathy , prognathy and short stature, growth-mental deficiency syndrome of Myhre.

The name refers to the first author Selma A. Myhre of the description from 1981.

The syndrome should not be confused with Ruvalcaba-Myhre-Smith syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, so far eleven sporadic cases, all male, have been described. The inheritance is autosomal dominant . An X-linked inheritance is also possible.

root cause

The disease is based on heterozygous new mutations in the SMAD4 gene , which codes for the SMAD protein .

Clinical manifestations

Clinical criteria are:

noticeably muscular figure
Short stature
Decreased mobility of the joints
Brachydactyly
mixed hearing loss
different degrees of mental retardation

In addition, there are facial dysmorphisms such as short eyelids, short philtrum , thin lips, hypoplastic maxilla or progeny .

Differential diagnosis

Acromicric dysplasia is to be differentiated .

literature

C. Le Goff, C. Michot, V. Cormier-Daire: Myhre syndrome. In: Clinical genetics. Vol. 85, No. 6, June 2014, ISSN 1399-0004 , pp. 503-513, doi: 10.1111 / cge.12365 , PMID 24580733 .

Individual evidence

↑ ^a ^b ^c Myhre syndrome. In: Orphanet (Rare Disease Database).
↑ Myhre Syndromes. In: Online Mendelian Inheritance in Man . (English)
↑ Myhre SA, Ruvalcaba RH, Graham CB: A new growth deficiency syndrome. In: Clinical genetics. Vol. 20, No. 1, July 1981, ISSN 0009-9163 , pp. 1-5, PMID 7296942 .
↑ C. Le Goff, C. Mahaut, A. Abhyankar, W. Le Goff, V. Serre, A. Afenjar, A. Destrée, M. di Rocco, D. Héron, S. Jacquemont, S. Marlin, M. Simon, J. Tolmie, A. Verloes, JL Casanova, A. Munnich, V. Cormier-Daire: Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. In: Nature genetics. Vol. 44, No. 1, January 2012, ISSN 1546-1718 , pp. 85-88, doi: 10.1038 / ng.1016 , PMID 22158539 .

[Orpha-1] Myhre syndrome. In: Orphanet (Rare Disease Database).

[2] Myhre Syndromes. In: Online Mendelian Inheritance in Man . (English)

[3] Myhre SA, Ruvalcaba RH, Graham CB: A new growth deficiency syndrome. In: Clinical genetics. Vol. 20, No. 1, July 1981, ISSN 0009-9163 , pp. 1-5, PMID 7296942 .

[4] C. Le Goff, C. Mahaut, A. Abhyankar, W. Le Goff, V. Serre, A. Afenjar, A. Destrée, M. di Rocco, D. Héron, S. Jacquemont, S. Marlin, M. Simon, J. Tolmie, A. Verloes, JL Casanova, A. Munnich, V. Cormier-Daire: Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. In: Nature genetics. Vol. 44, No. 1, January 2012, ISSN 1546-1718 , pp. 85-88, doi: 10.1038 / ng.1016 , PMID 22158539 .