Apert syndrome

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Description from OMIM

Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Most cases are sporadic, but autosomal dominant inheritance has been reported (Mantilla-Capacho et al., 2005). Cohen (1973) provided a review of all the 'craniosynostosis syndromes.'



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Syndactyly skeletal 100 % 7645606 2012-01-25
Craniosynostosis skeletal 100 % 16691624 2012-01-26
Proptosis nervous 92 % 16876521 2012-01-26
Non-progressive ventriculomegaly nervous 76 % 16691624 2012-01-26
Strabismus nervous 66 % 16876521 2012-01-25
Mental retardation nervous 52 % 3351902 2012-01-26
Emmetropia nervous 51 % 16876521 2012-01-25
Visual impairment nervous 44 % 16876521 2012-01-25
Astigmatism nervous 42 % 16876521 2012-01-25
Septum pellucidum defect nervous 40 % 16691624 2012-01-26
Hypermetropia nervous 34 % 16876521 2012-01-25
Ptosis nervous 32 % 16876521 2012-01-26
Anisometropia nervous 27 % 16876521 2012-01-25
Amblyopia nervous 18 % 16876521 2012-01-25
Myopia nervous 15 % 16876521 2012-01-25
Hydrocephalus nervous 13 % 16691624 2012-01-26
Optic atrophy nervous 8 % 16876521 2012-01-25
Corpus callosum agenesis nervous 7 % 16691624 2012-01-26



List of references:


Hands and feet in the Apert syndrome.
M M Cohen, S Kreiborg,

We studied 44 pairs of hands and 37 pairs of feet in Apert syndrome, utilizing clinical, dermatoglyphic, and radiographic methods. We also studied histologic sections of the hand from a 31-week stillborn fetus. Topic headings discussed include: clinical classification of syndactyly; correlations between types of hands and feet in the same patient; dermatoglyphics; anatomy of the hand; radiologic assessment; comparison with other studies; histologic assessment of the hand; acrocephalosyndactyly vs. acrocephalopolysyndactyly: a pseudodistinction; and some generalizations.

American journal of medical genetics - May 1995



Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.
Fabiola Quintero-Rivera, Caroline D Robson, Rosemary E Reiss, Deborah Levine, Carol B Benson, John B Mulliken, Virginia E Kimonis,



American journal of medical genetics. Part A - Jun 2006



Ophthalmic findings in apert syndrome prior to craniofacial surgery.
Jwu Jin Khong, Peter Anderson, Timothy L Gray, Michael Hammerton, Dinesh Selva, David David,

To determine ophthalmic findings in patients with Apert syndrome before craniofacial surgery.

American journal of ophthalmology - Aug 2006



Intellectual development in Apert's syndrome: a long term follow up of 29 patients.
M A Patton, J Goodship, R Hayward, R Lansdown,

Twenty-nine patients with Apert's syndrome were ascertained through hospital records. The mean age was 19.3 years (range eight to 35 years). Further information was obtained on their intelligence, education, and employment records. Fourteen patients (48%) had a normal or borderline IQ (greater than 70), nine patients (31%) were mildly mentally retarded (IQ 50 to 70), four patients (14%) were moderately retarded (IQ 35 to 49), and two patients (7%) were severely retarded (IQ less than 35). Early craniectomy did not appear to improve intellectual outcome. Six of the seven school leavers with normal or borderline intelligence were in full time employment or vocational training.

Journal of medical genetics - Mar 1988