Meier-Gorlin syndrome
MeSH: C538012ORPHA: 2554
Overview
autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae
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 Meier-Gorlin syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityNarrow mouthMicrocephalyRetrognathiaMicrognathiaAbnormality of the outer earAtresia of the external auditory canalFailure to thriveGrowth delayIntrauterine growth retardationDelayed skeletal maturationSlender long boneSevere short statureClinodactyly of the 5th fingerAbnormal epiphysis morphologyAnotiaMandibular aplasiaMicrotia, third degreeFeeding difficultiesHypoplastic labia majoraClitoral hypoplasiaHypoplastic labia minoraHypoplasia of the maxillaPosteriorly rotated earsLow-set earsAbnormal rib morphologyCraniosynostosisDyspneaRespiratory distressHigh, narrow palateRespiratory failurePatellar aplasiaAplastic clavicleClitoral hypertrophyCamptodactyly of fingerEpispadiasHypospadiasCleft palateSubmucous cleft hard palateBifid uvulaHearing impairmentIntellectual disabilityGlobal developmental delaySpecific learning disabilityElbow dislocationHypoplasia of penisThick vermilion borderBreast aplasiaCryptorchidism
Classification & Codes
MeSH Code
C538012Orphanet Code
ORPHA:2554Meier-Gorlin syndrome
| MeSH | C538012 |
| Orphanet | ORPHA:2554 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO