craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
ORPHA: 459061
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 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Global developmental delayAbnormal facial shapeSparse scalp hairShort statureProminent foreheadSparse eyebrowAbnormality of the kidneyHydrocephalusTrigonocephalyDandy-Walker malformationCerebellar vermis hypoplasiaPes planusHypoplastic toenailsDepressed nasal bridgePosterior fossa cystCamptodactylyInguinal herniaCleft palateBrachycephalyEpicanthusHypertelorismMicrognathiaLow-set earsDownslanted palpebral fissuresWidely spaced teethAnxietyEnuresisSeizureAgenesis of corpus callosumAtrial septal defectAortic valve stenosisTubulointerstitial nephritisSagittal craniosynostosisRelative macrocephalyAttention deficit hyperactivity disorderBilateral single transverse palmar creasesSleep apneaMild hearing impairmentScaphocephalySmall hand
Classification & Codes
Orphanet Code
ORPHA:459061craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
| Orphanet | ORPHA:459061 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO