Lichtenstein syndrome

Preferred Label : Lichtenstein syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : In both of female monozygotic twins, Lichtenstein (1972) described a 'new' syndrome comprising frequent infections due to a leukocyte and immune defect (neutropenia, IgA deficiency), bony abnormalities (peripheral osteoporosis) with tendency to fracture, failure of fusion of posterior spinal arches, subluxation at C1-C2 resulting in long-tract signs, metacarpophalangeal camptodactyly with ulnar deviation of the fingers and Simian crease, giant cyst of the lung, and unusual facies ('carp mouth,' synophrys, anteverted nostrils). *FIELD* RF 1. Lichtenstein, J. R.: A 'new' syndrome with neutropenia, immunoglobulin deficiency, peculiar facies and bony anomalies. Birth Defects Orig. Art. Ser. 8(3): 178-190, 1972. *FIELD* CS Misc: Frequent infections Immunology: IgA deficiency Heme: Neutropenia Skel: Peripheral osteoporosis; Fracture tendency; Posterior spinal arch fusion defect; C1-C2 subluxation; Metacarpophalangeal camptodactyly; Ulnar deviation of fingers; Transverse palmar crease Neuro: Long-tract signs Pulmonary: Giant cyst of lung;

Inheritance : Autosomal recessive;

Prefixed ID : 246550;

Details

Origin ID

246550;

UMLS CUI

C1855502;

Currated CISMeF NLP mapping
- Lichtenstein syndrome [MeSH concept]
- Lichtenstein syndrome [ORDO Disease]
- Lichtenstein syndrome (disorder) [SNOMED CT concept]
- lichtenstein syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the respiratory system [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- C1-C2 subluxation [HPO term]
- Carious teeth [HPO term]
- Decreased circulating IgA level [HPO term]
- Downturned corners of mouth [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Hirsutism [HPO term]
- Increased susceptibility to fractures [HPO term]
- Long-tract signs [HPO term]
- Metacarpophalangeal camptodactyly [HPO term]
- Metacarpophalangeal joint contracture [HPO term]
- Neutropenia [HPO term]
- Osteoporosis [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Single transverse palmar crease [HPO term]
- Synophrys [HPO term]
- Ulnar deviation of finger [HPO term]
- Unusual facies [HPO term]
ORDO concept(s)
- Lichtenstein syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lichtenstein syndrome [MeSH concept]
- Lichtenstein syndrome [ORDO Disease]
- Lichtenstein syndrome (disorder) [SNOMED CT concept]
- lichtenstein syndrome [MeSH Supplementary Concept]

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