macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

MONDO:0014716Mondo

Findings

No curated finding names macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0014716), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Infantile onset

Features

52 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Deep palmar creaseHPOHP:0006191
- 3 of 3 reported patients
Deep plantar creasesHPOHP:0001869
- 3 of 3 reported patients
Depressed nasal bridgeHPOHP:0005280
- 4 of 4 reported patients
- Very rare (1% to 4% of cases)
Diastasis rectiHPOHP:0001540
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
Downslanted palpebral fissuresHPOHP:0000494
- 4 of 4 reported patients
- Very rare (1% to 4% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

MTORHGNC:3942
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: congenital nervous system disorder
hereditary neurological disease
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Other names

2 names

Resolves to: macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Also called: MINDS syndromeSmith-Kingsmore Syndrome

Show the remaining 40

Thoracic hypoplasiaHPOHP:0005257
- 4 of 4 reported patients · Infantile onset
- Occasional (5% to 29% of cases)
Umbilical herniaHPOHP:0001537
- 4 of 4 reported patients
VentriculomegalyHPOHP:0002119
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
Wide mouthHPOHP:0000154
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
MegalencephalyHPOHP:0001355
- 1 of 4 reported patients
- Very frequent (80% to 99% of cases)
Cafe-au-lait spotHPOHP:0000957
- 3 of 4 reported patients
- Occasional (5% to 29% of cases)
SeizureHPOHP:0001250
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 3 reported patients
Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
Curly hairHPOHP:0002212
- Frequent (30% to 79% of cases)
Focal-onset seizureHPOHP:0007359
- Frequent (30% to 79% of cases)
Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
Generalized-onset seizureHPOHP:0002197
- Frequent (30% to 79% of cases)
Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Large for gestational ageHPOHP:0001520
- Frequent (30% to 79% of cases)
Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
Abnormal corpus callosum morphologyHPOHP:0001273
- Occasional (5% to 29% of cases)
AsthmaHPOHP:0002099
- Occasional (5% to 29% of cases)
Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
Capillary malformationHPOHP:0025104
- Occasional (5% to 29% of cases)
CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
HemangiomaHPOHP:0001028
- Occasional (5% to 29% of cases)
HyperactivityHPOHP:0000752
- Occasional (5% to 29% of cases)
Hypopigmented skin patchesHPOHP:0001053
- Occasional (5% to 29% of cases)
HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
Lactose intoleranceHPOHP:0004789
- Occasional (5% to 29% of cases)
Pes planusHPOHP:0001763
- Occasional (5% to 29% of cases)
PolymicrogyriaHPOHP:0002126
- Occasional (5% to 29% of cases)
Prominent foreheadHPOHP:0011220
- Occasional (5% to 29% of cases)
Protuberant abdomenHPOHP:0001538
- Occasional (5% to 29% of cases)
StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 3 reported patients
AllergyHPOHP:0012393
- Very rare (1% to 4% of cases)
Decreased circulating IgA concentrationHPOHP:0002720
- Very rare (1% to 4% of cases)
HypospadiasHPOHP:0000047
- Very rare (1% to 4% of cases)
Intestinal polypHPOHP:0005266
- Very rare (1% to 4% of cases)
Neonatal hypoglycemiaHPOHP:0001998
- Very rare (1% to 4% of cases)
Short chinHPOHP:0000331
- Very rare (1% to 4% of cases)