Information on CHH
Basic details
Name: Cartilage-hair hypoplasia | Acronym: CHH
Alt. names:
Gene: RMRP | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2001
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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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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Joint hypermobility |
91 (95.8%) | 0 (0.0%) | 4 (4.2%) |
| 2 | Fair hair |
81 (93.1%) | 0 (0.0%) | 6 (6.9%) |
| 3 | Sparse hair |
81 (93.1%) | 0 (0.0%) | 6 (6.9%) |
| 4 | Limited elbow extension |
79 (91.9%) | 0 (0.0%) | 7 (8.1%) |
| 5 | Lumbar hyperlordosis |
72 (84.7%) | 0 (0.0%) | 13 (15.3%) |
| 6 | Anemia |
67 (78.8%) | 0 (0.0%) | 18 (21.2%) |
| 7 | Recurrent infections |
58 (56.3%) | 0 (0.0%) | 45 (43.7%) |
| 8 | Coxa vara |
54 (62.8%) | 0 (0.0%) | 32 (37.2%) |
| 9 | Narrow chest |
34 (40.5%) | 0 (0.0%) | 50 (59.5%) |
| 10 | Congenital onset |
32 (76.2%) | 0 (0.0%) | 10 (23.8%) |
| 11 | Prominent sternum |
28 (33.3%) | 0 (0.0%) | 56 (66.7%) |
| 12 | Scoliosis |
18 (20.9%) | 0 (0.0%) | 68 (79.1%) |
| 13 | Breech presentation |
17 (21.0%) | 0 (0.0%) | 64 (79.0%) |
| 14 | Infantile onset |
9 (21.4%) | 0 (0.0%) | 33 (78.6%) |
| 15 | Aganglionic megacolon |
8 (7.4%) | 0 (0.0%) | 100 (92.6%) |
| 16 | Asymmetry of the thorax |
5 (6.0%) | 0 (0.0%) | 79 (94.1%) |
| 17 | Constipation |
5 (4.6%) | 0 (0.0%) | 103 (95.4%) |
| 18 | Basal cell carcinoma |
3 (2.9%) | 0 (0.0%) | 100 (97.1%) |
| 19 | Anal stenosis |
1 (0.9%) | 0 (0.0%) | 107 (99.1%) |
| 20 | Childhood onset |
1 (2.4%) | 0 (0.0%) | 41 (97.6%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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.