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2p21 microdeletion syndrome

Disease definition

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

ORPHA:163693

Classification level: Disorder
  • Synonym(s):
    • 2p21 deletion syndrome
    • Del(2)(p21)
    • Monosomy 2p21
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 606407
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in seven patients from three families of a small Bedouin clan.

Clinical description

Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. Reduced activity of the respiratory chain complexes I, III, IV and V was found in patients examined.

Etiology

The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21).

- Last update: November 2010

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

Additional information

Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.