Intellectual disability-seizures-macrocephaly-obesity syndrome
Synonyms: Der(8)t(8;12)
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-seizures-macrocephaly-obesity syndrome | Der(8)t(8;12) |
| fr | Syndrome de déficience intellectuelle-épilepsie-macrocéphalie-obésité | = en |
| de | Intelligenzminderung-Krämpfe-Makrozephalie-Adipositas-Syndrom | = en |
| es | Síndrome de discapacidad intelectual-crisis-macrocefalia-obesidad | = en |
| it | Sindrome da disabilità intellettiva crisi epilettiche, macrocefalia e obesità | = en |
| nl | Intellectuele achterstand - insulten - macrocefalie - obesitas-syndroom | = en |
| pt | Síndrome de perturbação do desenvolvimento intelectual-convulsões-macrocefalia-obesidade | |
| pl | Zespół niepełnosprawność intelektualna-napady padaczkowe-wielkogłowie-otyłość | = en |
| cs | Syndrom zahrnující mentální retardaci, záchvaty, makrocefalii a obezitu | = en |
| uk | Синдром інтелектуальної недостатності-судом-макроцефалії-ожиріння | = en |
| zh | 智力障碍-癫痫-大头畸形-肥胖综合征 | = en |
| tr | Zihinsel yetersizlik-nöbetler-makrosefali-obezite sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018248 | E | validated | |
| UMLS | C4749455 | 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 (4):
- ORPHA:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - 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 - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23980137[PMID] | |
| 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.
HPO phenotypes
50 annotations · validated 2016-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0012680 | Abnormality of the pineal gland | |
| HP:0000646 | Amblyopia | |
| HP:0000483 | Astigmatism | |
| HP:0002136 | Broad-based gait | |
| HP:0002019 | Constipation | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000805 | Enuresis | |
| HP:0000577 | Exotropia | |
| HP:0001508 | Failure to thrive | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002046 | Heat intolerance | |
| HP:0001269 | Hemiparesis | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0000158 | Macroglossia | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001513 | Obesity | |
| HP:0000629 | Periorbital fullness | |
| HP:0000508 | Ptosis | |
| HP:0000311 | Round face | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0100703 | Tongue thrusting | |
| HP:0001716 | Wolff-Parkinson-White syndrome | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000286 | Epicanthus | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0003186 | Inverted nipples | |
| HP:0002003 | Large forehead | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0001763 | Pes planus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001051 | Seborrheic dermatitis | |
| HP:0000574 | Thick eyebrow | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0011246 | Underdeveloped superior crus of antihelix | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23980137[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369950
- This record as JSON: /data/d/369950.json