ORPHA:457485
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Synonyms: MINDS syndrome · Smith-Kingsmore syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | MINDS syndrome · Smith-Kingsmore syndrome |
| fr | Syndrome de macrocéphalie-déficience intellectuelle-trouble neurologique du développement-petit thorax | Syndrome de Smith-Kingsmore · syndrome MINDS |
| de | Makrozephalie-Intelligenzminderung-neurologische Entwicklungsstörungen-schmaler Thorax-Syndrom | MINDS-Syndrom · Smith-Kingsmore-Syndrom |
| es | Síndrome de macrocefalia-discapacidad intelectual-trastorno del neurodesarrollo-tórax angosto | Síndrome MINDS · Síndrome de Smith-Kingsmore |
| it | Sindrome macrocefalia-disabilità intellettiva-disturbo dello sviluppo neurologico-torace piccolo | Sindrome Smith-Kingsmore · Sindrome MINDS |
| nl | Macrocefalie - intellectuele achterstand - neurologische ontwikkelingsstoornis - kleine thorax-syndroom | MINDS-syndroom · Syndroom van Smith-Kingsmore |
| pt | Síndrome de macrocefalia-perturbação do desenvolvimento intelectual-perturbação neurocomportamental-toráx estreito | Síndrome MINDS · Síndrome Smith-Kingsmore |
| pl | Zespół wielkogłowia, niepełnosprawności intelektualnej, zaburzeń rozwojowych układu nerwowego i małej klatki piersiowej | Zespół MINDS |
| cs | Syndrom zahrnující makrocefalii, mentální retardaci, neurovývojové poruchy a malý hrudník | MINDS syndrom |
| uk | Синдром макроцефалії-інтелектуальної недостатності-порушення нейророзвитку-малої грудної клітки | Синдром MINDS · Синдром Сміта-Кінгсмора |
| zh | 巨颅畸形-智力发育迟缓-神经发育迟缓-小胸廓-综合征 | 史密斯·金斯莫尔综合征 |
| tr | Makrosefali-zihinsel yetersizlik-nörogelişimsel bozukluk-küçük toraks sendromu | MINDS sendromu · Smith-Kingsmore sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616638 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014716 | E | validated | |
| UMLS | C4225259 | E | validated | |
| GARD | 13636 | 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTOR | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3942 | ENSG00000198793 | 601231 | 1p36.22 | mechanistic target of rapamycin kinase | 25851998[PMID]_26542245[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 27753196[PMID]_DOI:10.4137/JGE.S12583[OTHER]_25851998[PMID]_26542245[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27753196[PMID]_DOI:10.4137/JGE.S12583[OTHER]_25851998[PMID]_26542245[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
45 annotations · validated 2019-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0001355 | Megalencephaly | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002212 | Curly hair | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002007 | Frontal bossing | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001520 | Large for gestational age | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0002099 | Asthma | |
| HP:0000729 | Autistic behavior | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0025104 | Capillary malformation | |
| HP:0000028 | Cryptorchidism | |
| HP:0001540 | Diastasis recti | |
| HP:0001288 | Gait disturbance | |
| HP:0001028 | Hemangioma | |
| HP:0000752 | Hyperactivity | |
| HP:0000316 | Hypertelorism | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001252 | Hypotonia | |
| HP:0004789 | Lactose intolerance | |
| HP:0000343 | Long philtrum | |
| HP:0000194 | Open mouth | |
| HP:0001763 | Pes planus | |
| HP:0002126 | Polymicrogyria | |
| HP:0011220 | Prominent forehead | |
| HP:0001538 | Protuberant abdomen | |
| HP:0000486 | Strabismus | |
| HP:0005257 | Thoracic hypoplasia | |
| HP:0000154 | Wide mouth | |
| Very rare (<4-1%) | ||
| HP:0012393 | Allergy | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000047 | Hypospadias | |
| HP:0005266 | Intestinal polyp | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000331 | Short chin | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28892148[PMID]_27830187[PMID]_27753196[PMID]_26542245[PMID]_25851998[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457485
- This record as JSON: /data/d/457485.json