Aarskog syndrome
MeSH: C535331ORPHA: 9151 Treatment Available
Overview
monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Growth hormone (somatropin) Orphan Cold Chain | Subcutaneous injection, 5mg, 12mg cartridges | FDA Approved | 8 | 14d |
Clinical Presentation
Signs and symptoms associated with Aarskog syndrome, sourced from HPO and Orphanet clinical annotations.
Shawl scrotumEverted lower lip vermilionHypertelorismBroad palmUmbilical herniaBroad footShort footShort palmShort statureCamptodactyly of fingerSmall handInguinal herniaCryptorchidismBroad foreheadLong philtrumWide nasal bridgeAnteverted naresDownslanted palpebral fissuresPtosisHyperextensible skinClinodactyly of the 5th fingerFinger syndactylyHigh anterior hairlineCognitive impairmentAbnormality of the dentitionCleft palateOrofacial cleftCleft upper lipEpicanthusRound faceHypoplasia of the maxillaShort neckMegalocorneaStrabismusDelayed eruption of teethAtypical behaviorPectus excavatumSingle transverse palmar creaseCongestive heart failurePes planusTalipesGenu recurvatumAbnormality of the cervical spineAbnormal vertebral segmentation and fusionAttention deficit hyperactivity disorderAbnormal cardiovascular system morphologyAbnormal pinna morphologyJoint hypermobilityPosteriorly rotated ears
Classification & Codes
MeSH Code
C535331Orphanet Code
ORPHA:915Aarskog syndrome
| MeSH | C535331 |
| Orphanet | ORPHA:915 |
| Treatments | 1 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO