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Kaufman Oculocerebrofacial Syndrome

Oculocerebrofacial Syndrome, Kaufman Type


Presentation

  • Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.[orpha.net]
  • Here we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies.[ncbi.nlm.nih.gov]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • However, pale optic discs, iris colobomas, microcornea, strabismus, nystagmus, and hypertelorism are variably present. Systemic Features: There is both intrauterine and postnatal growth retardation.[disorders.eyes.arizona.edu]
Asymptomatic
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.[ncbi.nlm.nih.gov]
Single Transverse Palmar Crease
  • transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Ventriculomegaly 0002119[rarediseases.info.nih.gov]
  • transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma Cone/cone-rod dystrophy Anteverted nares Low-set ears Downslanted palpebral[mendelian.co]
Labored Breathing
  • The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.[rarediseases.oscar.ncsu.edu]
Pointed Teeth
  • teeth Distinctive facial features 2 ; joint limitations; hypothyroidism.[ncbi.nlm.nih.gov]
Cup-Shaped Ears
  • Note the distinctive facies of the two affected subjects with microcephaly, sparse eyebrows with unusual profile, upslanting and narrow palpebral fissures, strabismus, cup shaped ears, preauricular tags, and micrognathia.[jmg.bmj.com]
Dry Skin
  • Ectodermal abnormalities Sparse scalp hair, thin skin, dry skin, and hyperkeratosis are noted in some infants. The appearance of the scalp hair improves with age.[ncbi.nlm.nih.gov]
Muscle Hypotonia
  • Der Kaloustian Mcintosh Silver syndrome 0 *Synostosis *Developmental Disabilities *Muscle Hypotonia *Facies. Bowen syndrome 0 *Abnormalities, Multiple *Contracture *Glaucoma *Facies.[reference.md]
Muscle Weakness
  • weakness / flaccidity - Myopia - Narrow face - Nystagmus - Philtrum flat / large / featureless / absent cupidon bows - Preauricular / branchial tags / appendages - Short philtrum - Strabismus / squint - Telecanthus / canthal dystopy - Thin / retracted[csbg.cnb.csic.es]
Long Hands
  • hand / arachnodactyly - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Upslanted[csbg.cnb.csic.es]
Decrease in Height
  • Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms.[rarediseases.oscar.ncsu.edu]
Narrow Face
  • Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet.[ncbi.nlm.nih.gov]
  • face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags. severely inflicted people show very obvious facial features of a mentally retarded person[signssymptoms.org]
  • This rare genetic medical condition is characterized by some abnormal looking facial features including small head, narrow face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper and lower eyelids), highly arched[medigest.uk]
Cognitive Deficit
Upturned Nares
  • Anteverted nares Upturned nasal tip, Upturned nostrils, Upturned nares, Anteverted nose, Upturned nose, Nostrils anteverted [more] Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the[rarediseases.oscar.ncsu.edu]

Workup

  • Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup. Last update: March 2006 What is Meier-Gorlin syndrome? Meier-Gorlin syndrome is a condition primarily characterized by short stature.[findzebra.com]
Hypsarrhythmia
  • X-linked Ohdo syndrome (OMIM 300895 ) MED12 XL ID; constipation; hypotonia Distinctive facial features 3 Blepharophimosis w/facial & genital anomalies & intellectual disability, Verloes type (OMIM 604314 ) See footnote 4 Severe microcephaly; cleft palate Hypsarrhythmia[ncbi.nlm.nih.gov]

Treatment

  • 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]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Treatment Treatment Options: No general treatment is available although repair of some specific malformations is possible.[disorders.eyes.arizona.edu]
  • 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]

Prognosis

  • Diagnosis and Prognosis: The diagnosis may be suspected at birth by a pediatrician but because of the widespread congenital anomalies it may require collaboration with neurologists, ophthalmologists, orthopedists, and geneticists.[disorders.eyes.arizona.edu]
  • Prognosis Currently, there is no correlation between the genotype and phenotypes, so clinical severity of disease cannot be correlated with certain variants.[emedicine.medscape.com]
  • It is associated with a poor visual prognosis.[findzebra.com]

Etiology

Epidemiology

  • […] synonyms) Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for UBE3B Genetic Association Database (GAD) UBE3B Human Genome Epidemiology (HuGE) Navigator UBE3B Atlas of Genetics and Cytogenetics in Oncology and Haematology: UBE3B No data available for Genatlas for UBE3B Gene Deficiency[genecards.org]
  • […] activity results in increased enzyme substrate and abnormal actin-binding proteins important in neuronal morphogenesis. [4, 5] Fibroblast activity was found to be decreased by 80%-90% in patients with Lowe syndrome compared to healthy controls. [6] Epidemiology[emedicine.medscape.com]
  • Epidemiological study of congenital diaphragmatic defects with special reference to aetiology. Eur J Pediatr 1991 ; 150 : 726 –9. King SJ , Pilling DW, Walkinshaw S. Fetal echogenic lung lesions: prenatal ultrasound diagnosis and outcome.[jmg.bmj.com]
Sex distribution
Age distribution

Pathophysiology

  • SLC29A3 in dysosteosclerosis, a form of osteopetrosis ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Ubiquitination in disease pathogenesis and treatment Mammalian HECT ubiquitin-protein ligases: Biological and pathophysiological[dr-dn.nrc-cnrc.gc.ca]
  • Mammalian HECT ubiquitin-protein ligases: biological and pathophysiological aspects . Biochim. Biophys. Acta 1843 , 61–742014. 12. Gong, T.-W. L. , Huang, L. , Warner, S. J. & Lomax, M. I.[nature.com]
  • Pathophysiology Lowe syndrome is caused by a mutation of the OCRL1 gene mapped to the chromosomal locus of Xq26.1. [2] The gene encodes a phosphatidylinositol (4,5) bisphosphate 5 phosphatase, localized to the trans-Golgi complex involved in actin polymerization[emedicine.medscape.com]
  • Pathophysiology The condition is transmitted as an autosomal recessive trait, and often affects children of consanguineous parents.[findzebra.com]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Loss of this protein's function likely prevents cells from eliminating certain unnecessary proteins, resulting in problems with development and function of the brain, eyes, and other parts of the body.[ghr.nlm.nih.gov]
  • Heredity research traced the disease to a mutation in UBE3B gene, which partially prevents the normal expression of the gene.[cabi.org]

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