ORPHA:175
Cartilage-hair hypoplasia
Synonyms: Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare chondrodysplasia characterized by disproportional small stature due to metaphyseal lesions associated with fine slow growing hair.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cartilage-hair hypoplasia | Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type |
| fr | Chondrodysplasie métaphysaire autosomique récessive | Chondrodysplasie métaphysaire type McKusick · Hypoplasie cartilage-cheveux |
| de | Knorpel-Haar-Hypoplasie | Chondrodysplasie, metaphysäre, autosomal-rezessive · McKusick-Chondrodysplasie |
| es | Hipoplasia de cartílago-cabello | Condrodisplasia metafisaria autosómica recesiva · Hipoplasia de cartílago-pelo |
| it | Ipoplasia cartilagine-capelli | Condrodisplasia metafisaria autosomica recessiva · Condrodisplasia metafisaria, tipo McKusick |
| nl | Hypoplasie van kraakbeen-haar | Autosomaal recessieve metafysaire chondrodysplasie · Metafysaire chondrodysplasie, McKusick-type |
| pt | Hipoplasia cartilagem-cabelo | Condrodisplasia metafisária autossómica recessiva · Condrodisplasia metafisária, tipo McKusick |
| pl | Hipoplazja chrząstek i włosów | Autosomalna recesywna chondrodysplazja przynasadowa · Chondrodysplazja przynasadowa, typu McKusicka |
| cs | Syndrom hypoplastických chrupavek a vlasů | Autozomálně recesivní metafyzární chondrodysplázie · McKusickův typ metafyzární chondrodysplázie |
| uk | Хрящово-волосяна гіпоплазія | Аутосомно-рецесивна метафізарна хондродисплазія · Метафізарна хондродисплазія, тип МакКузіка |
| zh | 软骨－毛发发育不全 | 常染色体隐性遗传干骺端软骨发育不全 |
| tr | Kıkırdak-saç hipoplazisi | Metafizyal kondrodisplazi, McKusick tipi · Otozomal çekinik metafizyal kondrodisplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250250 | E | validated | |
| OMIM | 250460 | NTBT | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009595 | E | validated | |
| MeSH | C535916 | E | validated | |
| UMLS | C0220748 | E | validated | |
| GARD | 6996 | E | validated | |
| MedDRA | 10069596 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:169349Immuno-osseous dysplasia
rare genetic diseases; rare immunological diseases - ORPHA:93430Multiple metaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1838Metaphyseal dysplasia without hypotrichosis moved to · inactive
- ORPHA:93275Thanatophoric dysplasia, Glasgow variant moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RMRP | Disease-causing germline mutation(s) in | Assessed | HGNC:10031 | ENSG00000277027 | 157660 | 9p13.3 | RNA component of mitochondrial RNA processing endoribonuclease | 22420014[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 150 / 100 000 | Specific population | Value and class | Validated | 22420014[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.34 / 100 000 | Finland | Value and class | Validated | 1404295[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
79 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0009832 | Abnormal distal phalanx morphology of finger | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0004625 | Biconvex vertebral bodies | |
| HP:0000592 | Blue sclerae | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000444 | Convex nasal ridge | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0002353 | EEG abnormality | |
| HP:0001508 | Failure to thrive | |
| HP:0008499 | High hypermetropia | |
| HP:0003307 | Hyperlordosis | |
| HP:0002901 | Hypocalcemia | |
| HP:0001252 | Hypotonia | |
| HP:0100729 | Large face | |
| HP:0001377 | Limited elbow extension | |
| HP:0003027 | Mesomelia | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0002983 | Micromelia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0008905 | Rhizomelia | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0004279 | Short palm | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0045075 | Sparse eyebrow | |
| HP:0008070 | Sparse hair | |
| HP:0010301 | Spinal dysraphism | |
| HP:0000486 | Strabismus | |
| HP:0002982 | Tibial bowing | |
| HP:0002777 | Tracheal stenosis | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0006589 | Flaring of lower rib cage | |
| HP:0000212 | Gingival overgrowth | |
| HP:0002024 | Malabsorption | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0000545 | Myopia | |
| HP:0000774 | Narrow chest | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011220 | Prominent forehead | |
| HP:0001315 | Reduced tendon reflexes | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0003220 | Abnormality of chromosome stability | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001903 | Anemia | |
| HP:0000463 | Anteverted nares | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0000248 | Brachycephaly | |
| HP:0100543 | Cognitive impairment | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000286 | Epicanthus | |
| HP:0012722 | Heart block | |
| HP:0002240 | Hepatomegaly | |
| HP:0001382 | Joint hypermobility | |
| HP:0000400 | Macrotia | |
| HP:0000768 | Pectus carinatum | |
| HP:0000960 | Sacral dimple | |
| HP:0010306 | Short thorax | |
| HP:0200055 | Small hand | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/175
- This record as JSON: /data/d/175.json