acrocardiofacial syndrome
MeSH: C563936ORPHA: 2008
Overview
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit
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 acrocardiofacial syndrome, sourced from HPO and Orphanet clinical annotations.
Low-set earsSplit handIntellectual disabilityFeeding difficulties in infancyCryptorchidismHypospadiasCleft palateCleft upper lipHypertelorismHigh foreheadWide nasal bridgeLong eyelashesIntrauterine growth retardationSplit footCerebral cortical atrophyAbnormal metacarpal morphologyHypoplasia of penisProptosisHyperthyroidismSeizureHypotoniaHypertoniaJoint dislocationVentricular septal defectAtrial septal defectTetralogy of FallotTruncus arteriosusCoarctation of aortaMitral stenosisToe syndactylyHallux valgusFoot polydactylyAnal atresiaFinger syndactylyCamptodactyly of fingerUrogenital fistula
Classification & Codes
MeSH Code
C563936Orphanet Code
ORPHA:2008acrocardiofacial syndrome
| MeSH | C563936 |
| Orphanet | ORPHA:2008 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO