ORPHA:476126
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | |
| fr | Syndrome de micrognathie-infections récurrentes-troubles du comportement-déficience intellectuelle modérée | |
| de | Mikrognathie-rezidivierende Infekte-Verhaltensstörungen-milde Intelligenzminderung-Syndrom | |
| es | Síndrome de micrognatia-infecciones recurrentes-trastornos de conducta-discapacidad intelectual leve | |
| it | Sindrome micrognazia-infezioni ricorrenti-anomalie del comportamento-lieve disabilità intellettiva | |
| nl | Micrognathie - recidiverende infecties - gedragsafwijkingen - milde intellectuele achterstand-syndroom | |
| pt | Síndrome de micrognatia-infeções recorrentes-perturbação comportamental-perturbação do desenvolvimento intelectual ligeira | |
| pl | Zespół mikrognacji, nawracających infekcji, zaburzeń zachowania i łagodnej niepełnosprawności intelektualnej | |
| cs | Syndrom zahrnující mikrognatii, rekurentní infekce, poruchy chování a lehkou mentální retardaci | |
| uk | Синдром мікрогнатії-рецидивуючих інфекцій-поведінкових відхилень-легкої розумової відсталості | |
| zh | 小下颌畸形-反复感染-行为异常-轻度智力障碍综合征 | |
| tr | Mikrognati-tekrarlayan enfeksiyonlar-davranışsal anormallikler-hafif zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617061 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014892 | E | validated | |
| UMLS | C5568801 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRIO | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12303 | ENSG00000038382 | 601893 | 5p15.2 | trio Rho guanine nucleotide exchange factor | 26721934[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 26721934[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26721934[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.
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HPO phenotypes
55 annotations · validated 2019-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002465 | Poor speech | |
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000678 | Dental crowding | |
| HP:0000324 | Facial asymmetry | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000348 | High forehead | |
| HP:0000347 | Micrognathia | |
| HP:0011451 | Primary microcephaly | |
| HP:0002719 | Recurrent infections | |
| HP:0002650 | Scoliosis | |
| HP:0000664 | Synophrys | |
| HP:0001182 | Tapered finger | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001155 | Abnormality of the hand | |
| HP:0001344 | Absent speech | |
| HP:0000718 | Aggressive behavior | |
| HP:0000646 | Amblyopia | |
| HP:0010035 | Aplasia of the 1st metacarpal | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0012450 | Chronic constipation | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001674 | Complete atrioventricular canal defect | |
| HP:0000722 | Compulsive behaviors | |
| HP:0007970 | Congenital ptosis | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0002066 | Gait ataxia | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0000218 | High palate | |
| HP:0003072 | Hypercalcemia | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0002808 | Kyphosis | |
| HP:0000343 | Long philtrum | |
| HP:0009659 | Partial absence of thumb | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0002033 | Poor suck | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001250 | Seizure | |
| HP:0000742 | Self-mutilation | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0200006 | Slanting of the palpebral fissure | |
| HP:0002360 | Sleep abnormality | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0001337 | Tremor | |
| HP:0000706 | Unerupted tooth | |
| HP:0011908 | Unilateral radial aplasia | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28796471[PMID]_26721934[PMID]_27418539[PMID]_18388777[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/476126
- This record as JSON: /data/d/476126.json