recombinant 8 syndrome

MeSH: C535296ORPHA: 96167

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 recombinant 8 syndrome, sourced from HPO and Orphanet clinical annotations.

CryptorchidismAbnormality of the dentitionHypertelorismMicrognathiaAnteverted naresIntellectual disabilityGlobal developmental delayRedundant skinAbnormal hair morphologyDeep plantar creasesAbnormal facial shapeLow posterior hairlineDownturned corners of mouthLarge faceSmall scrotumHypoplastic male external genitaliaAbnormality of the kidneyAbnormal oral frenulum morphologyGingival overgrowthAbnormality of the outer earHearing impairmentLow-set earsChronic otitis mediaAbnormality of the neckAbnormal sternum morphologyPectus excavatumSeizureSpasticityVentricular septal defectAtrial septal defectTetralogy of FallotPatent ductus arteriosusScoliosisClinodactyly of the 5th fingerPulmonary artery stenosisDepressed nasal bridgePatellar aplasiaBilateral single transverse palmar creasesThick vermilion borderAbnormal cardiovascular system morphologyCamptodactyly of fingerCleft palateCleft upper lipAbnormality of the eyeAbnormality of visionAbnormality of the anus

Classification & Codes

MeSH Code

C535296

Orphanet Code

ORPHA:96167
recombinant 8 syndrome
MeSHC535296
OrphanetORPHA:96167
Treatments0 drug(s)
Symptoms on record46 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO