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microcephaly-brachydactyly-kyphoscoliosis syndrome

MeSH: C536349ORPHA: 3433

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 microcephaly-brachydactyly-kyphoscoliosis syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyDolichocephalyMalar flatteningLow-set earsMacrotiaProfound intellectual disabilityShuffling gaitHigh, narrow palateKyphoscoliosisDecreased muscle massShort statureFlat occiputDownslanted palpebral fissuresCataractAtlantoaxial abnormalityHypermobility of interphalangeal jointsBroad halluxBroad thumbWide nasal ridge

Classification & Codes

MeSH Code

C536349

Orphanet Code

ORPHA:3433
microcephaly-brachydactyly-kyphoscoliosis syndrome
MeSHC536349
OrphanetORPHA:3433
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO