ORPHA:2637
Microcephalic osteodysplastic primordial dwarfism type II
Synonyms: MOPD type II · Majewski osteodysplastic primordial dwarfism type II
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic osteodysplastic primordial dwarfism type II | MOPD type II · Majewski osteodysplastic primordial dwarfism type II |
| fr | Nanisme microcéphalique ostéodysplasique primordial type II | MOPD type II · Nanisme microcéphalique ostéodysplasique primordial de Majewski type 2 |
| de | Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ II | MOPD Typ II · Mikrozephaler osteodysplastischer primordialer Kleinwuchs Typ Majewski |
| es | Talla baja significativa primordial osteodisplásica microcefálica tipo II | Enanismo primordial osteodisplásico de Majewski tipo II · Enanismo primordial osteodisplásico microcefálico tipo II · MOPD tipo II |
| it | Nanismo primordiale osteodisplastico microcefalico, tipo II | MOPD, tipo II · Nanismo primordiale osteodisplastico di Majewski, tipo II |
| nl | Microcefale osteodysplastische primordiale dwerggroei type II | MOPD type II · Majewski osteodysplastische primordiale dwerggroei type II |
| pt | Nanismo primordial osteodisplásico microcefálico tipo 2 | |
| pl | Pierwotna karłowatość osteodysplastyczna mikrocefaliczna typu II | MOPD typu II · Pierwotna karłowatość osteodysplastyczna Majewskiego typu II |
| cs | Primordiální osteodysplastické trpaslictví s mikrocefalií, typ II | MOPD, typ II · Majewského primordiální osteodysplastické trpaslictví, typ II |
| uk | Мікроцефальна остеодиспластична первинна карликовість,тип II | Остеодиспластична первинна карликовість Маєвського II типу · MOPD тип II |
| zh | 小头骨发育不良先天性侏儒2型 | 小头畸形-骨发育不良-原基性侏儒综合征Ⅱ型 |
| tr | Mikrosefalik osteodisplastik primordiyal cücelik tip II | MOPD tip II · Majewski osteodisplastik primordiyal cücelik tip II |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210720 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0008872 | E | validated | |
| MeSH | C565898 | E | validated | |
| UMLS | C0432246 | E | validated | |
| GARD | 9844 | 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 (4):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:46658Primordial short stature-microdontia-opalescent and rootless teeth syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCNT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16068 | ENSG00000160299 | 605925 | 21q22.3 | pericentrin | 18174396[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 23498563[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
52 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002812 | Coxa vara | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0003498 | Disproportionate short stature | |
| HP:0002213 | Fine hair | |
| HP:0001611 | Hypernasal speech | |
| HP:0002866 | Hypoplastic iliac wing | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0000448 | Prominent nose | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000958 | Dry skin | |
| HP:0000293 | Full cheeks | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0000691 | Microdontia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001956 | Truncal obesity | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0001903 | Anemia | |
| HP:0100545 | Arterial stenosis | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002617 | Dilatation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0001601 | Laryngomalacia | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000826 | Precocious puberty | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0001297 | Stroke | |
| HP:0002777 | Tracheal stenosis | |
| HP:0002119 | Ventriculomegaly | |
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/2637
- This record as JSON: /data/d/2637.json