acrofacial dysostosis, Catania type
MeSH: C538182ORPHA: 1786
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, Catania type, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionAbnormal palate morphologyMicrocephalyMicroretrognathiaSmooth philtrumHigh foreheadDownslanted palpebral fissuresCarious teethBrachydactylyMild intellectual disabilityShort noseShort palmShort statureFinger syndactylyAbnormal dermatoglyphicsHypoplasia of the zygomatic boneSmall handCryptorchidismIntrauterine growth retardationDelayed skeletal maturationPreauricular pitBilateral single transverse palmar creasesFeeding difficulties in infancyAbnormal hair patternInguinal herniaHypospadiasWebbed neckPectus excavatumPremature birthTessier cleftCoarse hairSpina bifida occultaClinodactyly of the 5th fingerTooth agenesisPosteriorly rotated ears
Classification & Codes
MeSH Code
C538182Orphanet Code
ORPHA:1786acrofacial dysostosis, Catania type
| MeSH | C538182 |
| Orphanet | ORPHA:1786 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO