ORPHA:468631
Microcephalic cortical malformations-short stature due to RTTN deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic cortical malformations-short stature due to RTTN deficiency | |
| fr | Malformations corticales microcéphaliques-petite taille par déficit en RTTN | |
| de | Mikrozephale kortikale Fehlbildungen mit Kleinwuchs durch RTTN-Defizienz | RTTN-Mangel |
| es | Malformaciones corticales microcefálicas-talla baja por deficiencia de RTTN | |
| it | Malformazioni corticali microcefaliche e bassa statura da deficit di RTTN | |
| nl | Microcefale corticale malformaties - kleine gestalte door RTTN-deficiëntie | |
| pt | Malformações corticais microcefálicas-baixa estatura por deficiência RTTN | |
| pl | Niskorosłość mikrocefaliczna spowodowana niedoborem RTTN | |
| cs | Primordiální nanismus s mikrocefalií v důsledku deficitu RTTN | |
| uk | Мікроцефальні вади розвитку кори головного мозку-низькорослість, зумовлена дефіцитом RTTN | |
| zh | RTTN缺乏相关的小头畸形-原发性矮小症 | |
| tr | RTTN eksikliğine bağlı mikrosefalik primordiyal cücelik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614833 | E | validated | |
| ICD-10 | Q02 | NTBT | attributed | not yet validated |
| MONDO | 0018764 | E | validated | |
| UMLS | C3553831 | 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 (1):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RTTN | Disease-causing germline mutation(s) in | Assessed | HGNC:18654 | ENSG00000176225 | 610436 | 18q22.2 | rotatin | 26608784[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 30879067[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30879067[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.
6
HPO phenotypes
73 annotations · validated 2019-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002828 | Multiple joint contractures | |
| HP:0002126 | Polymicrogyria | |
| HP:0002465 | Poor speech | |
| HP:0001525 | Severe failure to thrive | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003510 | Severe short stature | |
| HP:0000340 | Sloping forehead | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0005650 | 2-5 finger cutaneous syndactyly | |
| HP:0010705 | 4-5 finger syndactyly | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0004742 | Abnormal renal collecting system morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0012294 | Abnormality of the occipital bone | |
| HP:0000315 | Abnormality of the orbital region | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0100702 | Arachnoid cyst | |
| HP:0007843 | Attenuation of retinal blood vessels | |
| HP:0008936 | Axial hypotonia | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002059 | Cerebral atrophy | |
| HP:0006872 | Cerebral hypoplasia | |
| HP:0002539 | Cortical dysplasia | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0002247 | Duodenal atresia | |
| HP:0001260 | Dysarthria | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007333 | Hypoplasia of the frontal lobes | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0000047 | Hypospadias | |
| HP:0000601 | Hypotelorism | |
| HP:0006380 | Knee flexion contracture | |
| HP:0001339 | Lissencephaly | |
| HP:0006870 | Lobar holoprosencephaly | |
| HP:0030260 | Microphallus | |
| HP:0000308 | Microretrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0006955 | Olivopontocerebellar hypoplasia | |
| HP:0000543 | Optic disc pallor | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0001302 | Pachygyria | |
| HP:0000125 | Pelvic kidney | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000520 | Proptosis | |
| HP:0000278 | Retrognathia | |
| HP:0010767 | Sacrococcygeal pilonidal abnormality | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0002360 | Sleep abnormality | |
| HP:0000319 | Smooth philtrum | |
| HP:0001257 | Spasticity | |
| HP:0009905 | Thin ear helix | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22939636[PMID]_26940245[PMID)_29967526[PMID]_30121372[PMID]_26608784[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468631
- This record as JSON: /data/d/468631.json