ANE syndrome
MeSH: C567425ORPHA: 157954
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 ANE syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismMicrocephalyHypodontiaCarious teethGynecomastiaDelayed pubertyDecreased response to growth hormone stimulation testHyperpigmentation of the skinIntellectual disabilityAlopeciaMotor deteriorationDelayed skeletal maturationKyphoscoliosisMultiple joint contracturesShort staturePremature loss of teethMotor neuron atrophyHyperpigmented neviUlnar deviation of the handAnterior pituitary hypoplasiaAdrenocorticotropin deficient adrenal insufficiencyDecreased circulating serum insulin-like growth factor 1 concentrationAbnormal response to ACTH stimulation testDecreased serum testosterone concentrationLipoatrophyGeneralized amyotrophyReduced circulating prolactin concentrationPituitary hypothyroidism
Classification & Codes
MeSH Code
C567425Orphanet Code
ORPHA:157954ANE syndrome
| MeSH | C567425 |
| Orphanet | ORPHA:157954 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO