Symptoma

Aurocephalosyndactyly

Auralcephalosyndactyly

An operative approach to the facial and hand deformity is presented in two case reports. 1953American Society of Plastic Surgeons [journals.lww.com]

The original description was presented by Troquart in 1886, and acrocephalosyndactyly was named by Apert in 1906. Since then, more than 200 cases have been reported in the world upto 1970. [kjp.or.kr]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

Coalition of distal phalanges and synonychia found in the hands is never present in the feet ... Analysis of 118 unrelated patients with new mutations revealed that the mutational spectrum in Apert syndrome is remarkably narrow ... [ibis-birthdefects.org]

Type 3 - Similar to type 2, with craniosynostosis but no cloverleaf skull is present. [fetalultrasound.com]

  • Disability

    Patients with Apert syndrome may have associated intellectual or developmental disabilities. [chop.edu]

    The order and rate of suture fusion determine the degree of deformity and disability. Once a suture becomes fused, growth perpendicular to that suture becomes restricted, and the fused bones act as a single bony structure. [emedicine.medscape.com]

    The order and rate of suture fusion determine the degree of deformity and disability [1] [4]. Once a suture becomes fused, growth perpendicular to that suture becomes restricted, and the fused bones act as a single bony structure. [scirp.org]

  • Developmental Disabilities

    Patients with Apert syndrome may have associated intellectual or developmental disabilities. [chop.edu]

  • Myopathy

    Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO [mseqdr.org]

    Neuralgic; HNA OMIM:602440 Amyotrophy, Monomelic OMIM:602553 Anal Atresia, Hypospadias, and Penoscrotal Inversion OMIM:616000 Analbuminemia; ANALBA OMIM:105580 Anal Canal Carcinoma OMIM:105563 Anal Sphincter Dysplasia; ASDP OMIM:105565 Anal Sphincter Myopathy [informatics.jax.org]

  • Visual Impairment

    The cloverleaf skull can cause limited brain growth, and the extreme proptosis can cause severe visual impairments. Type 3 is similar to type 2 but without the cloverleaf skull. [ojrd.biomedcentral.com]

    impairment compared with patients with the FGFR2 Pro253Arg mutation. [4, 5] Epidemiology Frequency United States Prevalence is estimated at 1 in 65,000 (approximately 15.5 in 1,000,000) live births. [6, 7] Apert syndrome accounts for 4.5% of all cases [emedicine.medscape.com]

    Patients with FGFR2 Ser252Trp mutation have a significantly greater prevalence of visual impairment compared with patients with the FGFR2 Pro253Arg mutation [19]. [scirp.org]

  • Hypertensive Retinopathy

    Retinopathy iPod Beiträge Iris and Ciliary Body Lacrimal System Lens Lids Neuro-Ophthalmology Optic Nerve Orbit Retina Sclera Strabismus Systemerkrankungen Vitreous Z Op-Videos Z Videos Endorsed by iPod Podcasting アペール症候群、尖頭合指症、顔 Diagnosis: アペール症候群、尖頭合指症 [atlasophthalmology.net]

The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment. [books.google.com]

Surgical treatment of the hand deformities for acrocephalosyndactyly Abstract Purpose. [ilizarov-journal.com]

The treatment of Apert syndrome is dependent upon both functional and appearance-related needs, and should be addressed immediately after your child is born. [chop.edu]

This can include: Ophthalmological treatment of amblyopia, ametropia and strabismus Audiological treatment and myringotomy for hearing loss Shunting to treating intracranial pressure due to hydrocephalus (increased cerebrospinal fluid within the cranial [dermnetnz.org]

Treatment Self treatment : Most simple boils can be treated at home. Ideally, the treatment should begin as soon as a boil is noticed. Early treatment may prevent later complications. [livingnaturally.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology Craniosynostosis has been estimated to occur in 1:2000 to 1:2500 births. [www2.aofoundation.org]

Etiology Mutations in the fibroblast growth factor receptor ( FGFR ) genes cause Pfeiffer syndrome: FGFR1 (on chromosome 8p11.2-p11) and FGFR2 (on chromosome 10q26) [ 4 ]. [ojrd.biomedcentral.com]

Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. [icd10data.com]

Epidemiology Pfeiffer syndrome affects about 1 in 100,000 individuals. Clinical description A craniosynostosis in association with short, broad thumbs and big toes are the major diagnostic clues for Pfeiffer syndrome. [ojrd.biomedcentral.com]

[…] optic disc pallor is more frequent in patients with the FGFR2 Pro253Arg mutation. [4] Patients with FGR2 Ser252Trp mutations have a significantly greater prevalence of visual impairment compared with patients with the FGFR2 Pro253Arg mutation. [4, 5] Epidemiology [emedicine.medscape.com]

Pathophysiology During early infancy ( 3 mo), the coronal suture area is prematurely closed. A bony condensation line beginning at the cranial base and extending upward with a characteristic posterior convexity represents this occurrence. [emedicine.medscape.com]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]

These hand deformities can be quite severe and prevent your child from functioning normally. [chop.edu]

The Main aim of surgery in treatment of Apert syndrome includes the following, to release the cranial sutures in order to permit a proper brain development, to prevent hydrocephalus due to raised intracranial pressure, repair the cleft in order to prevent [scirp.org]