macrocephaly-autism syndrome
MeSH: C565342ORPHA: 210548
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-autism syndrome, sourced from HPO and Orphanet clinical annotations.
MacrocephalyAutistic behaviorDelayed speech and language developmentIntellectual disabilityMotor delayCafe-au-lait spotMultiple lipomasNumerous neviHypotoniaDepressed nasal bridgePenile frecklingIntestinal polyposisHypertelorismPreaxial hand polydactylySeizureHepatic steatosisFoot polydactylyFrontal bossingThyroid carcinomaShort noseHurthle cell thyroid adenomaAttention deficit hyperactivity disorderMidface retrusionLymphoid nodular hyperplasia
Classification & Codes
MeSH Code
C565342Orphanet Code
ORPHA:210548macrocephaly-autism syndrome
| MeSH | C565342 |
| Orphanet | ORPHA:210548 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO