Apert syndrome

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. [Source: Wikipedia ]

Acrocephalosyndactyly Apert type
OrphaNet reference
Apert syndrome 
Is A
May Cause
Abnormal septum pellucidum
Absent nose
Absent thumb
Agenesis or hypoplasia of the corpus callosum
Anorectal anomaly
Broad distal phalanx of thumb
Broad thumb
Bulbous nose
Carpal and/or tarsal fusion
Carpal fusion
Cervical spine fusion
Choanal atresia
Choanal stenosis
Cleft lip/palate
Cloverleaf skull deformity
Common origin of carotid arteries
Cone-shaped epiphysis
Congenital abnormality of great toe
Congenital fused vertebrae
Congenital heart disease
Congenital hydrocephalus
Congenital midface hypoplasia
Congenital premature craniosynostosis
Congenital prognathism
Congenital renal cystic disease
Congenital short hands and feet
Congenital tracheal stenosis x
Congenital vertebral abnormality
Congenitally abnormal scapula
Congenitally limited joint mobility
Defective dentition
Delayed dentition
Delayed tooth eruption
Delta phalanx
Dental defect
Depressed nasal bridge
Duplication of great toe
Esophageal atresia
Flat occiput
Frontal bossing
Genu valgum
Humerus-radius-ulna synostosis
Hypoplastic terminal phalanges
Hypoplastic thumb
Inner ear anomaly
Large thumb
Limited joint mobility
Malformed orbit
Middle ear anomaly
Neuronal migration disorder
Radioulnar synostosis
Renal cystic disease
Short broad distal phalanx of thumb
Short middle phalanges
Short proximal phalanx
Short thumb
Skull base hypoplasia
Small nose
Small orbit
Tracheoesophageal fistula
Uterine anomaly
Vertebral malsegmentation
Wide thumb