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spondyloepiphyseal dysplasia congenita

ICD-10: Q77.7MeSH: C535788ORPHA: 94068

Contents

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

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 spondyloepiphyseal dysplasia congenita, sourced from HPO and Orphanet clinical annotations.

Growth delayScoliosisLumbar hyperlordosisDisproportionate short-trunk short statureDysplasia of the femoral headAplasia/hypoplasia involving bones of the extremitiesCoarse facial featuresShort neckPlatyspondylyOsteoporosisKyphosisGenu valgumFlat acetabular roofUpper limb undergrowthFlat faceHip painIncreased head circumferenceAbnormally ossified vertebraeGlossoptosisCleft palateHypertelorismMicrognathiaHearing impairmentRetinal detachmentMyopiaMotor delayBarrel-shaped chestAbnormal foot morphologySpinal cord compressionWaddling gaitAbnormal respiratory system physiologyLimited elbow movementShort long boneShort femurSpinal rigidityBack painReduced bone mineral densityCervical instabilityLaryngotracheomalaciaSmall epiphysesKnee painShort femoral neck

Classification & Codes

ICD-10 Code

Q77.7

MeSH Code

C535788

Orphanet Code

ORPHA:94068
spondyloepiphyseal dysplasia congenita
ICD-10Q77.7
MeSHC535788
OrphanetORPHA:94068
Treatments0 drug(s)
Symptoms on record42 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO