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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.
Features include very common findings: Split hand, Intellectual disability, Low-set ears, and Feeding difficulties in infancy; and common findings: Cleft palate, Hypertelorism, Hypospadias, and Cleft upper lip and others. 45 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 6 | Split hand, Split foot, Toe syndactyly |
Phenotype severity distribution: 4 very common features, 13 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:13 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acrocardiofacial syndrome
Brain and nerves |
4 |
Global developmental delay, Intellectual disability, Cerebral cortical atrophy |
Heart and blood vessels | 3 | Ventricular septal defect, Atrial septal defect, Mitral stenosis |
Head and neck | 2 | Cleft palate, Cleft upper lip |
Growth and development | 2 | Growth delay, Intrauterine growth retardation |
Muscles | 2 | Cerebral cortical atrophy, Low muscle tone (hypotonia) |
Lungs and breathing | 1 | Absent pulmonary artery |
Digestive system | 1 | Feeding difficulties in infancy |
Hormones | 1 | Hyperthyroidism |
Bones and joints | 1 | Joint dislocation |