ORPHA:2636
Microcephalic osteodysplastic primordial dwarfism types I and III
Synonyms: MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type · Primordial microcephalic dwarfism, Crachami type · Taybi-Linder syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic osteodysplastic primordial dwarfism types I and III | MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type · Primordial microcephalic dwarfism, Crachami type · Taybi-Linder syndrome |
| fr | Nanisme microcéphalique ostéodysplasique primordial types I et III | MOPD types I et III · Nanisme microcéphalique ostéodysplasique primordial type Crachami · Nanisme microcéphalique ostéodysplasique primordial type Taybi-Linder · Syndrome de Taybi-Linder |
| de | Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ I und III | Mikrozephaler primordialer Kleinwuchs Typ Crachami · Taybi-Linder-Syndrom · MOPD Typ I und III · MOPD Typen I und III · Mikrozephaler osteodysplastischer primordialer Kleinwuchs Typ Taybi-Linder |
| es | Talla baja significativa primordial osteodisplásica microcefálica tipos I y III | Enanismo primordial osteodisplásico microcefálico tipo Taybi-Linder |
| it | Nanismo osteodisplastico microcefalico primitivo tipi I e III | MOPD, tipi I e III · Nanismo osteodisplastico microcefalico primitivo, tipo Crachami · Nanismo osteodisplastico microcefalico primitivo, tipo Taybi-Linder · Sindrome di Taybi-Linder |
| nl | Microcefale osteodysplastische primordiale dwerggroei types I en III | MOPD types I en III · Microcefale osteodysplastische primordiale dwerggroei, Taybi-Linder-type · Microcefale primordiale dwerggroei, Crachami-type · Syndroom van Taybi-Linder |
| pt | Nanismo microcefálico osteodisplásico primordial tipos I e III | Nanismo microcefálico osteodisplásico primordial, tipo Taybi-Linder · Nanismo microcefálico primordial, tipo Crachami |
| pl | Pierwotna niskorosłość osteodysplastyczna mikrocefaliczna typu 1 i 3 | MOPD typy I i III · Pierwotna niskorosłość mikrocefaliczna, typu Crachami · Pierwotna niskorosłość osteodysplastyczna mikrocefaliczna typu Taybiego i Lindera · Zespół Taybiego i Lindera |
| cs | Mikrocefalické osteodysplastické primordiální trpaslictví, typy I a II | MOPD typ I a II · Primordiální mikrocefalické trpaslictví, typ Crachamiové · Mikrocefalické osteodysplastické primordiální trpaslictví, Taybiho-Lindnerův typ · Taybiho-Linderův syndrom · Mikrocefalické osteodysplastické primordiální trpaslictví, Taybi-Lindnerův typ · Taybi-Linderův syndrom |
| uk | Мікроцефальна остеодиспластична первинна карликовість I та III типів | Мікроцефальна остеодиспластична первинна карликовість, тип Тайбі-Ліндера · MOPD типів I і III · Первинна мікроцефальна карликовість, тип Крахамі · Синдром Тейбі-Ліндера |
| zh | 小头骨发育不良先天性侏儒I和III型 | 小头畸形-骨发育不良-原基性侏儒症，Taybi-Linder型 |
| tr | Mikrosefalik osteodisplastik primordiyal cücelik türleri I ve III | MOPD türleri I ve III · Taybi-Linder sendromu · Primordiyal mikrosefalik cücelik, Crachami tipi · Mikrosefalik osteodisplastik primordiyal cücelik, Taybi-Linder tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210710 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0016994 | E | validated | |
| UMLS | C4319565 | E | validated | |
| GARD | 5120 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNU4ATAC | Disease-causing germline mutation(s) in | Assessed | HGNC:34016 | ENSG00000264229 | 601428 | 2q14.2 | RNA, U4atac small nuclear | 21815888[PMID]_23794361[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 53 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
6
HPO phenotypes
74 annotations · validated 2017-07-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009832 | Abnormal distal phalanx morphology of finger | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
| HP:0001167 | Abnormality of finger | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0003172 | Abnormality of the pubic bone | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0001596 | Alopecia | |
| HP:0005613 | Aplasia/hypoplasia of the femur | |
| HP:0006660 | Aplastic clavicles | |
| HP:0010443 | Bifid femur | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0009836 | Broad distal phalanx of finger | |
| HP:0000414 | Bulbous nose | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002094 | Dyspnea | |
| HP:0011097 | Epileptic spasm | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0000501 | Glaucoma | |
| HP:0001263 | Global developmental delay | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001176 | Large hands | |
| HP:0008818 | Large iliac wings | |
| HP:0003189 | Long nose | |
| HP:0011457 | Loss of eyelashes | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0003552 | Muscle stiffness | |
| HP:0002749 | Osteomalacia | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001622 | Premature birth | |
| HP:0000448 | Prominent nose | |
| HP:0000269 | Prominent occiput | |
| HP:0000520 | Proptosis | |
| HP:0002878 | Respiratory failure | |
| HP:0000278 | Retrognathia | |
| HP:0002748 | Rickets | |
| HP:0002063 | Rigidity | |
| HP:0001250 | Seizure | |
| HP:0003510 | Severe short stature | |
| HP:0000470 | Short neck | |
| HP:0004279 | Short palm | |
| HP:0008070 | Sparse hair | |
| HP:0001257 | Spasticity | |
| HP:0001328 | Specific learning disability | |
| HP:0002133 | Status epilepticus | |
| HP:0045074 | Thin eyebrow | |
| Frequent (79-30%) | ||
| HP:0009912 | Abnormal tragus morphology | |
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000272 | Malar flattening | |
| HP:0000340 | Sloping forehead | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0012471 | Thick vermilion border | |
| HP:0000474 | Thickened nuchal skin fold | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2636
- This record as JSON: /data/d/2636.json