cloverleaf skull-multiple congenital anomalies syndrome

MeSH: C564611ORPHA: 93267

Overview

This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies

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 cloverleaf skull-multiple congenital anomalies syndrome, sourced from HPO and Orphanet clinical annotations.

Ambiguous genitaliaLarge fontanellesHypertelorismShort philtrumMicrognathiaLow-set earsWide nasal bridgeShort neckCataractMicrophthalmiaAbnormal rib morphologyNarrow chestAbnormal clavicle morphologyPlatyspondylyAbnormal metaphysis morphologyAgenesis of corpus callosumOmphaloceleVentricular septal defectFrontal bossingCloverleaf skullPlatybasiaDownturned corners of mouthDecreased skull ossificationAbnormal epiphysis morphologyBowing of the long bonesRhizomeliaProximal placement of thumb

Classification & Codes

MeSH Code

C564611

Orphanet Code

ORPHA:93267
cloverleaf skull-multiple congenital anomalies syndrome
MeSHC564611
OrphanetORPHA:93267
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO