frontometaphyseal dysplasia
ICD-10: Q78.5MeSH: C538064ORPHA: 1826
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 frontometaphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.
HypertelorismProminent supraorbital ridgesMicrognathiaHearing impairmentWide nasal bridgeDownslanted palpebral fissuresAbnormal facial shapeScoliosisSkeletal dysplasiaJoint contracture of the handShort phalanx of fingerBroad thumbLong fingersHydronephrosisCoarse facial featuresFull cheeksConductive hearing impairmentSensorineural hearing impairmentShort diaphysesInterphalangeal joint contracture of fingerWrist flexion contractureSubglottic stenosisAbnormal heart morphologySclerosis of skull baseFused cervical vertebraeElbow flexion contractureLimited elbow movementMetaphyseal wideningDislocated radial headUreteral obstructionMetacarpophalangeal joint contractureLimited wrist movementPes valgusUrethral stenosisUlnar deviation of the handShort distal phalanx of the thumbShort distal phalanx of fingerShort metacarpalLimitation of knee mobilityLimitation of movement at anklesKeloidsShort metatarsalCamptodactyly of fingerCleft palateBifid uvulaMixed hearing impairmentAbnormal cornea morphologyAstigmatismAmblyopiaOligodontiaSprengel anomalySingle transverse palmar creaseIntellectual disabilityCraniosynostosisGrowth delayPes cavusChiari malformationSpina bifida occultaHypotrophy of the small hand musclesProgressive bowing of long bonesShoulder muscle hypoplasiaHypoplasia of the musculature
Classification & Codes
ICD-10 Code
Q78.5MeSH Code
C538064Orphanet Code
ORPHA:1826frontometaphyseal dysplasia
| ICD-10 | Q78.5 |
| MeSH | C538064 |
| Orphanet | ORPHA:1826 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO