intellectual disability-brachydactyly-Pierre robin syndrome
MeSH: C563880ORPHA: 364577
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 intellectual disability-brachydactyly-Pierre robin syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palatePierre-Robin sequenceMicrocephalyHypertelorismUnderdeveloped nasal alaeBrachydactylyMild intellectual disabilityGlobal developmental delayExaggerated cupid's bowLong upper lipShort palpebral fissureMicroglossiaEverted lower lip vermilionHearing impairmentSmall earlobeBulbous noseProminent nasal bridgeTelecanthusMicrophthalmiaNystagmusSynophrysOligodontiaCafe-au-lait spotFacial capillary hemangiomaHypotoniaFailure to thriveIntrauterine growth retardationOligohydramniosSmall nailShort columellaShort noseProminent metopic ridgeAgenesis of central incisorCorneal opacityAplasia of the distal phalanx of the 5th fingerCleft mandibleTented upper lip vermilionAbnormality of canineDelayed peripheral myelinationProminence of the zygomatic boneAbnormal cardiovascular system morphologyThin eyebrowAplasia of the distal phalanx of the 5th toe
Classification & Codes
MeSH Code
C563880Orphanet Code
ORPHA:364577intellectual disability-brachydactyly-Pierre robin syndrome
| MeSH | C563880 |
| Orphanet | ORPHA:364577 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO