keratosis follicularis-dwarfism-cerebral atrophy syndrome

MeSH: C536158ORPHA: 2339

Overview

medical condition

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 keratosis follicularis-dwarfism-cerebral atrophy syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyAbsent eyelashesCerebral atrophyAbsent eyebrowSevere short statureGeneralized keratosis follicularis

Classification & Codes

MeSH Code

C536158

Orphanet Code

ORPHA:2339
keratosis follicularis-dwarfism-cerebral atrophy syndrome
MeSHC536158
OrphanetORPHA:2339
Treatments0 drug(s)
Symptoms on record6 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO