Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly. [en.wikipedia.org]

Butterworth-Heinemann, 2013/09/11 - 224 ページ Oral Manifestations of Inherited Disorders focuses on inherited systemic disorders presenting oral manifestations that have been reported as an integral part of the disorder. [books.google.com]

Butterworth-Heinemann, 11.09.2013 - 224 Seiten Oral Manifestations of Inherited Disorders focuses on inherited systemic disorders presenting oral manifestations that have been reported as an integral part of the disorder. [books.google.de]

Abstract We present a female patient with acrocephalopolysyndactyly, pentalogy of Fallot, psychomotor retardation, and hypoacusis with a de novo, apparently balanced, reciprocal translocation 46,XX,t(1;18)(p31;q11). [jmg.bmj.com]

• Disproportionate Short Stature

  Facies abnormality Short stature Intrauterine growth retardation Source: Diseases Database See also the symptoms of Aarskog-Ose-Pande syndrome and Sensory neuropathy (see Tingling) - due to administration of excessive levels of pyridoxine See also the [webhealthnetwork.com]

• Abdominal Mass

  […] pain Source: Diseases Database See also the symptoms of Angiostrongyliasis and Grey Turner's sign Retroperitoneal fibrosis Abdominal pain Abdominal mass Back pain Embolism Hypovolaemic shock Source: Diseases Database See also the symptoms of Abdominal [webhealthnetwork.com]

• Periodontitis

  […] deformity - due to frequent severe bleeding into the joints See also the symptoms of Stuart factor deficiency, acquired and StuaScarred skin (see Scaly skin) Small white spots after lesion has healed Secondary infection (type of Opportunistic infections) Periodontal [webhealthnetwork.com]

• Cranial Asymmetry

  In addition, the cranial sutures often fuse unevenly, causing the head and face to appear dissimilar from one side to the other (craniofacial asymmetry). [rarediseases.org]

• Nose Enlargement

  […] characterized by features of Carpenter's syndrome with additional craniofacial dysostosis, maxillary hypoplasia, and 2–4 digit fusion Bazex syndrome; acrokeratosis paraneoplastica keratoderma (i.e. erythema, scaling and irritation) of skin of ears, nose [medical-dictionary.thefreedictionary.com]

• Confusion

  […] skin, cataracts, progeria (premature senility), hypogonadism and diabetes mellitus Wernicke's syndrome; Wernicke–Korsakoff syndrome; Wernicke's encephalopathy brainstem ischaemia causing nystagmus and other ocular effects, tremors and ataxia, mental confusion [medical-dictionary.thefreedictionary.com]

  Don’t confuse this poly- with another -poly which means “to sell”. Prefixes help to add complexity to the English language and make it possible to create new words that are easily understood by speakers everywhere. [amantrading.co.in]

• Hypoketotic Hypoglycemia

  Encephalopathy due to hypoglycemia Hypoketotic hypoglycemia Sudden death See also the symptoms of Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and LongInfant death #occurs in 25% of cases See also the symptoms of Medium-Chain Acyl-CoA [webhealthnetwork.com]

• Mycobacterium Avium Complex

  avium complex (MAC) Encephalitis Meningitis Nerve damage HIV encephalopathy (see Brain symptoms) AIDS dementia complex Behavioral changes (see Behavioral symptoms) Poor circulation Headache Stroke Lymphoma Death due to internal bleeding See also the [webhealthnetwork.com]

Treatment Treatment Options: No treatment of the ocular defects is necessary in most cases. Craniectomy may be required in cases with severe synostosis. References Article Title: Carpenter syndrome Hidestrand P, Vasconez H, Cottrill C. [disorders.eyes.arizona.edu]

Depending on the severity of the skull fusion, treatment soon after birth may be needed if pressure inside the brain is raised. [gosh.nhs.uk]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[…] approach to medial tibial stress syndrome (MTSS) Presentation Treatment Phase 1: acute phase Cessation of exercise activity until all pain resolves RICE(P) Phase 2: rehabilitation phase Deep compartment muscle exercise to strengthen the deep fascial–bone [medical-dictionary.thefreedictionary.com]

Parents should talk to their children’s physician and medical team about their child, potential associated symptoms and overall prognosis. The symptoms of Carpenter syndrome types 1 and 2 are extremely similar and have significant overlap. [rarediseases.org]

Etiology Mutations in the following genes have been found in ACS: FGFR1 (8p12), FGFR2 (10q25.3-q26), FGFR3 (4p16.3), and TWIST1 (7p21). [orpha.net]

Etiology  Unclear etiology  poor development of the jaw at about the 6th to the 11th week of fetal life 10. [fr.slideshare.net]

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

Summary Epidemiology The exact prevalence and birth incidence of ACS syndromes are not known. [orpha.net]

Journal of Epidemiology & Community Health. 2006 Oct 1; 60(10):851–3. Reséndiz I, Uribe E. Síndrome de Apert. Rev Acta Med Grupo Ángeles (Méx). 2013; 11 (4): 173-179. Villarroel A, Hochstatter E, Claustro R. [editorial.ucsg.edu.ec]

D Jordan, S Hindocha, M Dhital, M Saleh and W Khan, The Epidemiology, Genetics and Future Management of Syndactyly, The Open Orthopaedics Journal, 10.2174/1874325001206010014, 6, 1, (14-27), (2012). [doi.org]

[…] diagnosed from clinical presentation, symptoms reduction on administration of sympathetic nerve blockade, and intense, focal periarticular uptake of contrast medium in a delayed imaging-phase bone scan; treated by early, aggressive physical therapy to prevent [medical-dictionary.thefreedictionary.com]

Some reports suggest that early surgical intervention may help to prevent intellectual disability in some instances. [rarediseases.org]

Preventing brain compression, optic nerve compression/cornea injury, and psychosocial problems.  2. Promoting normal development of craniofacial structures such as brain, skull, facial bones, and muscle.  3. [fr.slideshare.net]