Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
- Choanal atresia
- Craniosynostosis syndrome
- Cryptorchidism
- Esophageal atresia
- Proptosis
- Ventricular septal defect
- Hydrocephalus
- Hydronephrosis
- Hyperhidrosis
- Hypertelorism
- Dental malocclusion
- Myopia
- Strabismus
- Syndactyly
- Arachnoid cyst
- Pectus carinatum
- Corpus callosum, agenesis of
- Finger syndactyly
- Megalencephaly
- Brachycephaly
- Delayed eruption of teeth
- High forehead
- Growth abnormality
- Overriding aorta
- Ectopic anus
- Cerebellar hypoplasia
- Chronic otitis media
- Delayed cranial suture closure
- Mandibular prognathia
- Downslanted palpebral fissures
- Broad thumb
- Absent septum pellucidum
- Postaxial hand polydactyly
- Sagittal craniosynostosis
- Large fontanelles
- Choanal stenosis
- Congenital hypertrophic pyloric stenosis
- Acne
- Chiari type I malformation
- Vaginal atresia
- Hearing impairment
- Preaxial hand polydactyly
- Narrow palate
- Lambdoidal craniosynostosis
- Synostosis of carpal bones
- Depressed nasal bridge
- Broad forehead
- Limited elbow movement
- Flat face
- Midface retrusion
- Coronal craniosynostosis
- Posterior fossa cyst
- Brachyturricephaly
- Malar flattening
- Cutaneous syndactyly
- Abnormal morphology of the limbic system
- Acrobrachycephaly
- Broad distal phalanx of the thumb
- Broad distal hallux
- Anomalous tracheal cartilage
- Delayed epiphyseal ossification
- Shallow orbits
- Rhizomelic arm shortening
- Humeroradial synostosis
- Cleft palate
- Ventriculomegaly
- Intellectual disability
- Cutaneous finger syndactyly
- Cervical C5/C6 vertebrae fusion
- Bifid uvula
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Autosomal dominant inheritance
Not provided
Not provided
Not provided
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