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Microphthalmia Syndromic 6

MCOPS6


Presentation

  • 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]
  • Myopia is sometimes present. The ERG reveals generalized rod and cone dysfunction in some eyes, but may be normal in others. In many eyes the ERG is nonrecordable. Cataracts are frequently present.[disorders.eyes.arizona.edu]
  • Clinical anophthalmia with micrognathia, malformed ears, digital anomalies and abnormal external genitalia Microphthalmia and pituitary anomalies Microphthalmia with brain and digit developmental anomalies Keywords Any medical or genetic information present[uniprot.org]
  • 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]
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; Small scrotum ; Small sella turcica ; Toe syndactyly ; Uplifted earlobe ; Ventriculomegaly Associated Genes BMP4 (Withdrawn symbols: BMP2B ) Mouse Orthologs Bmp4 (Withdrawn symbols: Bmp2b, Bmp2b-1, Bmp2b1 ) Source OMIM:607932[mousephenotype.org]
Dentist
  • The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.[books.google.com]
Flexion Contracture
  • contracture of thumb ; Global developmental delay ; Hearing impairment ; High forehead ; High palate ; Hypospadias ; Hypothyroidism ; Inferior vermis hypoplasia ; Lambdoidal craniosynostosis ; Low-set ears ; Macrotia ; Malar flattening ; Microcephaly[mousephenotype.org]
High Forehead
  • Clinodactyly of the 5th finger ; Coloboma ; Cryptorchidism ; Delayed CNS myelination ; Facial asymmetry ; Failure to thrive ; Female hypogonadism ; Finger syndactyly ; Flexion contracture of thumb ; Global developmental delay ; Hearing impairment ; High[mousephenotype.org]
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]
Small Scrotum
  • Plagiocephaly ; Posteriorly rotated ears ; Preaxial hand polydactyly ; Protruding ear ; Renal hypoplasia ; Retinal dystrophy ; Retrognathia ; Sclerocornea ; Severe muscular hypotonia ; Short middle phalanx of finger ; Single transverse palmar crease ; Small[mousephenotype.org]
Cognitive Deficit
  • Many individuals are slow learners and may have cognitive deficits. The pituitary gland is often underdeveloped resulting in thyroid dysfunction and abnormal development of the sex organs. Hearing loss has been reported in many individuals.[disorders.eyes.arizona.edu]

Workup

  • 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]

Treatment

  • 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: Cataracts can be removed in selected individuals with potential visual function. Socket prostheses should be considered in anophthalmia and extreme microphthalmia.[disorders.eyes.arizona.edu]
  • 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]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]

Prognosis

  • 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]

Etiology

  • 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]

Epidemiology

  • 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]
  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.com]
  • 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]
  • Am J Med Genet 71: 8–15 PubMed Google Scholar Rittler M, Paz JE, Castilla EE (1997) VATERL: an epidemiologic analysis of risk factors.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • 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]

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