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Lichtenstein syndrome

MedGen UID:
340889
•Concept ID:
C1855502
•
Disease or Syndrome
Synonym: Neutropenia immunoglobulin deficiency peculiar facies and bony anomalies
SNOMED CT: Lichtenstein syndrome (763668009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009523
OMIM®: 246550
Orphanet: ORPHA2390

Definition

Syndrome with characteristics of frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLichtenstein syndrome
Follow this link to review classifications for Lichtenstein syndrome in Orphanet.

Recent clinical studies

Etiology

Jaffe-Lichtenstein Syndrome Associated with a Simple Bone Cyst: Unprecedented Rare Case Report.
Miranda PG, Henriques JCG, Paulo LFB, Guedes CDCFV, Mitri FF, Silva CJ
Braz Dent J 2020 Sep-Oct;31(5):557-561. doi: 10.1590/0103-6440202003158. PMID: 33146341
Melatonin deficiency and fibrous dysplasia: might a relation exist?
Abdel-Wanis ME, Tsuchiya H
Med Hypotheses 2002 Nov;59(5):552-4. doi: 10.1016/s0306-9877(02)00251-7. PMID: 12376077

Diagnosis

Jaffe-Lichtenstein Syndrome Associated with a Simple Bone Cyst: Unprecedented Rare Case Report.
Miranda PG, Henriques JCG, Paulo LFB, Guedes CDCFV, Mitri FF, Silva CJ
Braz Dent J 2020 Sep-Oct;31(5):557-561. doi: 10.1590/0103-6440202003158. PMID: 33146341
Osteosarcoma of the Mandible Arising in Fibrous Dysplasia-A Case Report.
Pack SE, Al Share AA, Quereshy FA, Baur DA
J Oral Maxillofac Surg 2016 Nov;74(11):2229.e1-2229.e4. Epub 2016 Jun 21 doi: 10.1016/j.joms.2016.06.174. PMID: 27425882

Clinical prediction guides

Skeletal disorders associated with skin pigmentation: a role of melatonin?
Abdel-Wanis ME, Kawahara N
Med Hypotheses 2003 Nov-Dec;61(5-6):640-2. doi: 10.1016/s0306-9877(03)00265-2. PMID: 14592800

Supplemental Content

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