Disease Information for Apert syndrome

Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Beaked nose/congenital
Craniofacial Abnormalities/Congenital
Midfacial hypoplasia/flat face dysmorphism
Prominent forehead/High forehead
Sunken Cheek Bones
Supraorbital bony deformities/congenital
Supraorbital horizontal groove
Small nails/congenital
Crowded teeth
High arched palate
Hypoplasia Narrow Maxilla
Narrow palate deformity
Mitten hand syndactyly
Intelligence normal
Mental Deficiency Child
Shortened upper extremities
Turricephaly (Tower skull)
Small nose
Downward sloping eyes/Antimongoloid slant
Eyelid Retraction
Shallow orbits
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Associated Diseases & Rule outs
Associated Disease & Complications
Apert syndrome
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital heart disease
Hypertelorism/Wide Spaced Eyes
Limb deformities/anomalies
Mental retardation
Obstructive sleep apnea/Children
Patent ductus arteriosis
Polydactyly/Supernumery digits
Pulmonic Valve atresia
Pulmonic valve stenosis
Tracheo-esophageal fistula, congenital
Ventricular septal defect
Hand anomalies
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Faces-cranio online database (ex)
Pathophysiology/FGFR 2 Gene mutation
Pathophysiology/Fibroblast GF receptor 2 Gene
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Maternal Chromosome mutation
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Dystostosis/craniofacial (ex)
Apert, Apert syndrome, Apert's syndrome, Apert's syndrome (disorder), Syndrome Apert, Synonym/Acrocephalosyndactyly type 1 (Aperts), Synonym/Acrocephalosyndactyly/Apert, Synonym/Apert's Syndactyly, Synonym/Syndactylic Oxycephaly

Synonyms of Apert Syndrome: ACS I; ACS1; Acrocephalosyndactyly, Type I; Syndactylic Oxycephaly

Apert syndrome, Not Pfeiffer syndrome (also ACS type 1)also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital); The disorder is character-ized by distinctive malformations of the head that lead to distinctive facial features; In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, mental retardation may also be present; Among babies born with Apert syndrome, the fibrous joints between bones of the skull (sutures) close prematurely (craniosynostosis); The pressure of continued brain growth distorts various bones of the skull and the face; The skull is forced into one of several characteristic shapes; Often the head appears abnormally pointed at the top (acrocephaly); The distortion of the skull plates create changes in the facial bones leading to characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (exophthalmos), underdevelopment of midfacial regions (midface hypoplasia), and/or a narrow roof of the mouth (palate);Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits); Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail ("mitten-like" syndactyly); In almost all instances, Apert syndrome results from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically); In rare cases, the disorder may be inherited as an autosomal dominant trait----------[NORD 2007]---------------


External Links Related to Apert syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)