macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ORPHA: 457485
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, sourced from HPO and Orphanet clinical annotations.
MacrocephalyIntellectual disabilityMegalencephalySeizureGlobal developmental delaySpecific learning disabilityLarge for gestational ageAbnormal facial shapeFrontal bossingVentriculomegalyAbnormal speech patternGeneralized-onset seizureCurly hairFocal-onset seizureCryptorchidismWide mouthOpen mouthHypertelorismLong philtrumStrabismusAutistic behaviorHyperactivityCafe-au-lait spotHemangiomaHypopigmented skin patchesHypotoniaAbnormal corpus callosum morphologyGait disturbanceProtuberant abdomenDiastasis rectiPes planusAsthmaPolymicrogyriaLactose intoleranceThoracic hypoplasiaProminent foreheadCapillary malformationHypospadiasShort chinDownslanted palpebral fissuresNeonatal hypoglycemiaDecreased circulating IgA concentrationIntestinal polypDepressed nasal bridgeAllergy
Classification & Codes
Orphanet Code
ORPHA:457485macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
| Orphanet | ORPHA:457485 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO