Heimler syndrome 1
ORPHA: 3220
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 Heimler syndrome 1, sourced from HPO and Orphanet clinical annotations.
Abnormal fingernail morphologyIntellectual disabilityExternal genital hypoplasiaPili tortiAbnormal toenail morphologyAbnormal hair quantityThin eyebrowAbnormality of nail colorRound facePrimary amenorrheaLarge handsShort statureArrhythmiaSensory neuropathyAcanthosis nigricansHyporeflexiaCerebral calcificationDelayed skeletal maturationIchthyosisPeripheral neuropathyHigh anterior hairlineMuscle flaccidityCamptodactyly of fingerHypogonadismAbnormality of the dentitionHearing impairmentSensorineural hearing impairmentAbnormal eyelid morphologyAbnormal eyebrow morphologyAbnormal nasolacrimal system morphologyTaurodontiaAbnormal dental enamel morphologyDiabetes mellitus
Classification & Codes
Orphanet Code
ORPHA:3220Heimler syndrome 1
| Orphanet | ORPHA:3220 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO