Information on MDWH
Name: Metaphyseal dysplasia without hypotrichosis | Acronym: MDWH
Alt. names:
Gene: RMRP | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2002
Last updated on: 2023-02-28 16:41:18 by
Description
There is a wide range of manifestations and severity, and while the disorder may be frequently (though not always) easily clinically recognizable, there is an increased risk reported of hematologic, immunologic, and oncologic complications, and surveillance and prompt treatment may be beneficial; HSCT has been described. Refs. PMIDs: 14284412; 3521972; 1743218; 1789294; 1442902; 1290847; 1404295; 8444246; 9809821; 10494084; 10064668; 11207361; 11940090; 16252239; 16097009; 16832578; 18280854; 18698627; 18280853; 19150606; 20375313; 20538026; 21063072; 22420014; 22987807
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Childhood onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Cone-shaped epiphyses of the phalanges of the hand |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Metaphyseal dysplasia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Metaphyseal irregularity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Metaphyseal striations |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Short metacarpal |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | short stature |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Genu varum |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Joint hypermobility |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Facial dysmorphism |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 11 | Abnormal hair morphology |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 12 | Abnormality of pelvic girdle bone morphology |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 13 | Vertebral column abnormality |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
| 14 | Immunodeficiency |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).