Microcephalic primordial dwarfism, Dauber type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic primordial dwarfism, Dauber type | |
| fr | Nanisme microcéphalique primordial type Dauber | |
| de | Kleinwuchs, mikrozephaler primordialer, Typ Dauber | |
| es | Talla baja significativa primordial microcefálica tipo Dauber | Enanismo primordial microcefálico tipo Dauber |
| it | Nanismo primordiale microcefalico, tipo Dauber | |
| nl | Microcefale primordiale dwerggroei, Dauber-type | |
| pt | Nanismo primordial microcefálico, tipo Dauber | |
| pl | Pierwotna karłowatość mikrocefaliczna, typ Daubera | |
| cs | Mikrocefalické primordiální trpaslictví, Dauberův typ | |
| uk | Мікроцефальна первинна карликовість, тип Даубера | |
| zh | Dauber型小头原发性侏儒症 | |
| tr | Mikrosefalik primordiyal cücelik, Dauber tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614851 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | attributed | validated |
| MONDO | 0013922 | E | validated | |
| UMLS | C4749303 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NIN | Disease-causing germline mutation(s) in | Assessed | HGNC:14906 | ENSG00000100503 | 608684 | 14q22.1 | ninein | 22933543[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22933543[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22933543[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2019-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001191 | Abnormal carpal morphology | |
| HP:0012814 | Bilateral breast hypoplasia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001263 | Global developmental delay | |
| HP:0001385 | Hip dysplasia | |
| HP:0000601 | Hypotelorism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0009826 | Limb undergrowth | |
| HP:0004626 | Lumbar scoliosis | |
| HP:0003067 | Madelung deformity | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | |
| HP:0001513 | Obesity | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000448 | Prominent nose | |
| HP:0001250 | Seizure | |
| HP:0008846 | Severe intrauterine growth retardation | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
| HP:0004322 | Short stature | |
| HP:0001607 | Subglottic stenosis | |
Annotation source: 22933543[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319675
- This record as JSON: /data/d/319675.json