Mietens syndrome explained

Mietens syndrome
Synonym:	Intellectual disability, Mietens-Weber type Mietens-Weber syndrome ^[1] Corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation Mental retardation syndrome, Mietens Weber type^[2]

Mietens syndrome is a autosomal recessive disorder first described by Mietens and Weber.^[3] The condition is named after a German physician named Carl Mietens.^[4]

Only 9 cases have been reported.^[5] __TOC__

Symptoms and signs

Intellectual disability
Flat feet
Crossed eyes
Severe postnatal growth retardation
Nystagmus
Narrow nose
Short forearm bones
Absent proximal radial epiphyses
Autosomal recessive inheritance
Dislocated radial head^[6]
Sclerocornea has been reported in this condition.^[7]

History

In 1966, Carl Mietens and Helge Weber reported cases of four children, 3 sisters and 1 brother. Who suffered from a cluster of congenital anomalies and mental retardantion.^[8]

In 2006, two documented has been reported.^[9]

Notes and References

Web site: Mietens-Weber syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program.
Web site: Mietens-Weber syndrome.
Book: Jones. H. Royden. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. Vivo. Darryl C. De. Darras. Basil T.. 2003. Butterworth-Heinemann. 978-0-7506-7190-3. 137. en.
Book: Beighton, Greta. The Person Behind the Syndrome. 2012-12-06. Springer Science & Business Media. 978-1-4471-0925-9. en.
Web site: RESERVED. INSERM US14-- ALL RIGHTS. Orphanet: Mietens syndrome. 2021-09-10. www.orpha.net. en.
Web site: Mietens-Weber syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. 2021-08-27. rarediseases.info.nih.gov.
Book: Traboulsi, Elias I.. Genetic Diseases of the Eye. 2012-01-12. Oxford University Press, USA. 978-0-19-532614-7. 93. en.
Book: Winter. Robin M.. Multiple Congenital Anomalies: A Diagnostic Compendium. Baraitser. Michael. 2013-12-20. Springer. 978-1-4899-3109-2. 406. en.
Martínez-Glez. Víctor. Lapunzina. Pablo. Delicado. Alicia. Tendero. Adrián. Mori. María Angeles. de Torres. María Luisa. Fernández. Luis. Palomares. María. Pajares. Isidora López. July 2006. Mietens-Weber syndrome: two new patients and a review. Clinical Dysmorphology. 15. 3. 175–177. 10.1097/01.mcd.0000204985.54366.a7. 0962-8827. 16760739. 7225698.