acrofacial dysostosis, Patagonia type
MeSH: C538185ORPHA: 1787
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 acrofacial dysostosis, Patagonia type, sourced from HPO and Orphanet clinical annotations.
ScoliosisHigh, narrow palateSpina bifida occultaPili tortiDermal atrophyAplasia/Hypoplasia of the skinUnilateral cleft lipLow anterior hairlineMicrognathiaPosteriorly rotated earsLow-set earsSparse eyelashesOligodontiaDelayed skeletal maturationShort statureSparse lateral eyebrowFinger syndactylyShort 4th metacarpalMidface retrusionSmall handMalar flatteningBroad foreheadBulbous noseShort neckAbnormal form of the vertebral bodiesSparse hairSupernumerary toothThin eyebrowAbnormal eyelid morphology
Classification & Codes
MeSH Code
C538185Orphanet Code
ORPHA:1787acrofacial dysostosis, Patagonia type
| MeSH | C538185 |
| Orphanet | ORPHA:1787 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO