Birk-Barel syndrome
MeSH: C567357ORPHA: 166108
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 Birk-Barel syndrome, sourced from HPO and Orphanet clinical annotations.
Open mouthDolichocephalyBroad philtrumShort philtrumHypomimic faceNarrow foreheadMicrognathiaProtruding earNarrow nasal bridgeBroad nasal tipHyperactivitySacral dimpleGlobal developmental delayGeneralized hypotoniaNeonatal hypotoniaDysphoniaDysphagiaHighly arched eyebrowHigh, narrow palateTented upper lip vermilionIncisor macrodontiaFeeding difficultiesThick vermilion borderFatigable weakness of skeletal musclesFatiguable weakness of proximal limb musclesNasogastric tube feedingAreflexiaTongue fasciculationsLimited elbow flexion/extensionCongenital finger flexion contracturesMotor axonal neuropathySpinal muscular atrophyFoot joint contracture
Classification & Codes
MeSH Code
C567357Orphanet Code
ORPHA:166108Birk-Barel syndrome
| MeSH | C567357 |
| Orphanet | ORPHA:166108 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO