brachytelephalangy-dysmorphism-Kallmann syndrome
MeSH: C537101ORPHA: 1295
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 brachytelephalangy-dysmorphism-Kallmann syndrome, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionHypertelorismBroad foreheadTelecanthusHypopigmented skin patchesBrachydactylyShort noseAbnormal nostril morphologyAbnormal metacarpal morphologyShort distal phalanx of fingerAplastic/hypoplastic toenailHypoplasia of the zygomatic boneHypogonadotropic hypogonadismBifid scrotumAnosmiaSynophrysJoint stiffnessGenu valgumHypoplasia of penis
Classification & Codes
MeSH Code
C537101Orphanet Code
ORPHA:1295brachytelephalangy-dysmorphism-Kallmann syndrome
| MeSH | C537101 |
| Orphanet | ORPHA:1295 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO