branchioskeletogenital syndrome
MeSH: C537084ORPHA: 1299
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 branchioskeletogenital syndrome, sourced from HPO and Orphanet clinical annotations.
MicropenisAbnormality of the dentitionSubmucous cleft hard palateBifid uvulaBrachycephalyMicrocephalyMandibular prognathiaPointed chinAbnormal midface morphologyHypertelorismHypoplasia of the maxillaHigh foreheadBroad nasal tipShort neckStrabismusTelecanthusProptosisPeriorbital wrinklesSynophrysCarious teethPectus excavatumPenoscrotal hypospadiasModerate intellectual disabilityHighly arched eyebrowAbnormal sella turcica morphologyThickened calvariaDownturned corners of mouthDepressed nasal bridgeAbnormality of the vertebral spinous processesLarge earlobeAttached earlobeAbnormal dentin morphologyAdvanced pneumatization of the mastoid processBlepharochalasisRootless teethFlat faceUnilateral cleft palateThin vermilion borderShort philtrumMixed hearing impairmentDownslanted palpebral fissuresCraniosynostosisAbnormality of the cervical spineThoracolumbar kyphoscoliosisPremature loss of teethUreteral stenosisEyelid colobomaSeizureAbsent external genitaliaUmbilical herniaAnteriorly placed anusAbsent nippleBladder exstrophyUpper limb peromeliaAmelia involving the lower limbs
Classification & Codes
MeSH Code
C537084Orphanet Code
ORPHA:1299branchioskeletogenital syndrome
| MeSH | C537084 |
| Orphanet | ORPHA:1299 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO