Mietens syndrome

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Mietens syndrome
Other names
  • 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]
Autosomal recessive - en.svg
This condition is inherited via an autosomal recessive pattern

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]

Contents

Only 9 cases have been reported. [5]

Symptoms and signs

  1. Intellectual disability [6]
  2. Flat feet [6]
  3. Crossed eyes [6]
  4. Severe postnatal growth retardation [6]
  5. Nystagmus [6]
  6. Narrow nose [6]
  7. Short forearm bones [6]
  8. Absent proximal radial epiphyses [6]
  9. Autosomal recessive inheritance [6]
  10. Dislocated radial head [6]
  11. 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 intellectual disabilities. [8]

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

References

  1. ↑ "Mietens-Weber syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Archived from the original on December 31, 2016.
  2. ↑ "Mietens-Weber syndrome".
  3. ↑ Jones, H. Royden; Vivo, Darryl C. De; Darras, Basil T. (2003). Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. Butterworth-Heinemann. p. 137. ISBN   978-0-7506-7190-3.
  4. ↑ Beighton, Greta (2012-12-06). The Person Behind the Syndrome. Springer Science & Business Media. ISBN   978-1-4471-0925-9.
  5. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Mietens syndrome". www.orpha.net. Retrieved 2021-09-10.{{cite web}}: CS1 maint: numeric names: authors list (link)
  6. 1 2 3 4 5 6 7 8 9 10 "Mietens-Weber syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on December 31, 2016. Retrieved 2021-08-27.
  7. ↑ Traboulsi, Elias I. (2012-01-12). Genetic Diseases of the Eye. Oxford University Press, USA. p. 93. ISBN   978-0-19-532614-7.
  8. ↑ Winter, Robin M.; Baraitser, Michael (2013-12-20). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 406. ISBN   978-1-4899-3109-2.
  9. ↑ 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. doi:10.1097/01.mcd.0000204985.54366.a7. ISSN   0962-8827. PMID   16760739. S2CID   7225698.
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