Lichstenstein syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 35 |
| OrphanetNr: | 2390 |
| OMIM Id: |
246550
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Constitutional neutropenia with extra-haematopoietic manifestations
-Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0002714) | Downturned corners of mouth | 98 / 7739 | ||||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0000664) | Synophrys | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0000670) | Carious teeth | 145 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000194) | Open mouth | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0006297) | Hypoplasia of dental enamel | 64 / 7739 | ||||
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(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0004599) | Absent or minimally ossified vertebral bodies | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0006070) | Metacarpophalangeal joint contracture | 3 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | 244 / 7739 | ||||
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(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0003320) | C1-C2 subluxation | 5 / 7739 | ||||
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(HPO:0004097) | Deviation of finger | 13 / 7739 | ||||
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(HPO:0009465) | Ulnar deviation of finger | Very frequent [Orphanet] | 48 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0007477) | Abnormal dermatoglyphics | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0010701) | Abnormal immunoglobulin level | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0002720) | IgA deficiency | 33 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(HPO:0001874) | Abnormality of neutrophils | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(OMIM) | Giant cyst of lung | 1 / 7739 | ||||
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(OMIM) | Posterior spinal arch fusion defect | 1 / 7739 | ||||
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(OMIM) | Peripheral osteoporosis | 1 / 7739 | ||||
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(HPO:0002423) | Long-tract signs | 7 / 7739 | ||||
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(OMIM) | Carp mouth | 2 / 7739 | ||||
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(OMIM) | Fracture tendency | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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