Anomalies of the hands, fingers, and toes are often present. The hands are broad, the thumb may be misplaced, and the fingers may be partially fused. An extra finger or toe is sometimes present. [disorders.eyes.arizona.edu]

Retinal lacunae and seizures are present in all, or almost all, of the cases. [aicardisyndromefoundation.org]

Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. [orpha.net]

At physical examination he presented hypoplastic alae nasi, anteverted nares, and narrow nasal bridge. [iovs.arvojournals.org]

• Single Transverse Palmar Crease

  transverse palmar crease ; Small scrotum ; Small sella turcica ; Toe syndactyly ; Uplifted earlobe ; Ventriculomegaly Associated Genes BMP4 (Withdrawn symbols: BMP2B ) Mouse Orthologs Bmp4 (Withdrawn symbols: Bmp2b, Bmp2b-1, Bmp2b1 ) Source OMIM:607932 [mousephenotype.org]

  transverse palmar crease 0000954 Small scrotum Underdeveloped scrotum 0030276 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Uplifted earlobe Lobe, uplifted Upturned earlobe [ more ] 0009909 Showing of 72 | Last updated: 12/1/2018 Making a diagnosis [rarediseases.info.nih.gov]

• Dysostosis

  Desmin Desmin-related Myopathy Dilated Cardiomyopathy Cardiomyopathy Distal Myopathy DHCR24 24-Dehydrocholesterol Reductase Congenital Heart Diseases (CHD) Desmosterolosis DLL3 Delta-Like 3 (Drosophila) Congenital Heart Disease (CHD) Spondylocostal Dysostosis [bcm.edu]

• Rigor

  Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

• Macula

  granular appearing macula, vertical supranuclear gaze palsy/AR/NPC1, NPC2, SMPD1/#257200, #607616, #257220 NOONAN SYNDROME/Epicanthal folds, myopia, ptosis, hypertelorism, downslanting palpebral fissures/AD/Numerous/Multiple NORMAL-TENSION GLAUCOMA/ [eyewiki.org]

  granular appearing macula, vertical supranuclear gaze palsy AR NPC1, NPC2, SMPD1 #257200, #607616, #257220 NOONAN SYNDROME Epicanthal folds, myopia, ptosis, hypertelorism, downslanting palpebral fissures AD Numerous Multiple NORMAL-TENSION GLAUCOMA [eyewiki.aao.org]

  Within this group of 76 patients, 38 children could not be operated because they had very small eyes, colobomas compromising the macula, and inoperable retinal detachment. [sboportal.org.br]

• Psychomotor Retardation

  However, in many cases, the disorder is characterized by growth delays before and after birth, severe to profound mental retardation, a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation) [rarediseases.org]

  retardation [ 39 ] and hermaphroditism [ 40 ]. [molecularcytogenetics.biomedcentral.com]

J Med Genet 34: 582–586 PubMed Google Scholar Froster UG, Stallmach T, Wisser J et al. (1997) Lethal multiple pterygium. syndrome: Suggestion for a consistent pathological workup and review of reported cases. [link.springer.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment Treatment Options: There is no treatment beyond supportive care for specific health issues. [disorders.eyes.arizona.edu]

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]

Standard Therapies Treatment The treatment of Chromosome 6, Partial Trisomy 6q is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Diagnosis and Prognosis: This is a multisystem disorder requiring a multidisciplinary management approach. [disorders.eyes.arizona.edu]

It is generally accepted that the number and severity of features present in a child with Aicardi syndrome is associated with the individual prognosis. [aicardisyndromefoundation.org]

Prognosis Approximately 45 percent of trisomy 13 babies die within their first month of life; up to 70 percent in the first six months; and over 70 percent by one year of age. Survival to adulthood is very rare. [healthofchildren.com]

Despite a couple of other doctors confirming that I had no vision and giving me a very grim prognosis my parents became my biggest fans and total and utter servants. [wonderbaby.org]

[…] interfere in the final visual acuity after the surgery of congenital cataract. (17) Another aspect that interfered in the visual result was the fact that children with microphthalmia whose cataracts with a greater chance of a better postoperative visual prognosis [sboportal.org.br]

Heritable etiologies and the other etiologies could not be compared due to the small number of the sample. Table 8 presents the visual results of aphasic eyes in Group I versus Group II operated after 4 months of age. [sboportal.org.br]

Microphthalmia can have a complex etiology and genetics. [radiopaedia.org]

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

It is estimated that 65-80% of patient’s MRDD etiology remains unknown [ 5 ]. 9p duplication syndrome is considered one of the most frequent autosomal anomalies in life born together with trisomies 13, 18 and 21 [ 6 ]. [molecularcytogenetics.biomedcentral.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

You can help by adding to it. ( July 2017 ) Epidemiology [ edit ] The most extensive epidemiological survey on this congenital malformation has been carried out by Dharmasena et al [4] and using English National Hospital Episode Statistics, they calculated [en.wikipedia.org]

Relevant External Links for STRA6 Genetic Association Database (GAD) STRA6 Human Genome Epidemiology (HuGE) Navigator STRA6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: STRA6 No data available for Genatlas for STRA6 Gene Identification [genecards.org]

Epidemiological studies have predicted both heritable and environmental factors in causing anophthalmia and microphthalmia. [ojrd.biomedcentral.com]

Pathophysiology See the list below: Trisomy 18 severely affects all organ systems. In translocations that result in partial trisomy or in cases of mosaic trisomy 18, clinical expression is less severe, and survival is usually longer. [emedicine.medscape.com]

Paulo, São Paulo, SP, Brazil (3) Departamento de Otorrinolaringologia (LIM32), Hospital das Clínicas, Faculdade de Medicina, University of São Paulo, São Paulo, SP, Brazil References Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T: Genetics and pathophysiology [molecularcytogenetics.biomedcentral.com]

In mammals the failure of expression of the transcription factor, MITF ( microphthalmia-associated transcription factor ), in the pigmented retina prevents this structure from fully differentiating. [en.wikipedia.org]

Prevention There is no known way to prevent Patau syndrome though it can be diagnosed prenatally via amniocentesis. [healthofchildren.com]

Prevention of Secondary Complications No special preventative care is recommended. Follow-up care is personalized based on the physical impairments found in the individual. [ncbi.nlm.nih.gov]

Other syndromes such as Cornelia de Lange may have gastrointestinal problems associated with them which may require special diets or medicines to prevent more serious conditions from developing. [tsbvi.edu]

Even if these processes are elucidated in the future, novel therapeutic approaches to prevent these conditions from occurring could still be precluded by very early ocular development in the foetus. [ojrd.biomedcentral.com]