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]

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]

• Fishing

  Fish, A.; Pasqualato, S.; Polo, S. Diagnosis of Van den Ende‐Gupta syndrome: Approach to the Marden‐Walker‐like spectrum of disorders Niederhoffer, K. Y.; Fahiminiya, S.; Eydoux, P.; Mawson, J.; Nishimura, G.; Jerome‐Majewska, L. A.; Patel, M. S. [deepdyve.com]

  In the subjects, karyotype and subtelomeric fluorescence in situ hybridisation (FISH) analyses were normal. [jmg.bmj.com]

  Alignment of a segment of the human UBE3B HECT domain with other HECT domain-containing proteins in mammals, fish and birds showed excellent conservation of amino acids that are in close proximity to the HECT domain catalytic site including Lys1047 and [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]

• Pointed Teeth

  teeth Distinctive facial features 2 ; joint limitations; hypothyroidism. [ncbi.nlm.nih.gov]

• Dysplastic Ears

  Bulbous nasal tip, dysplastic ears, mask-like facial appearance, retrognathia 3. Triangular and coarse facies with thick alae nasi 4. The genetic basis of this presumably autosomal recessive syndrome is unknown. 5. [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]

• Long and Thin Fingers

  […] and thin fingers). [jmg.bmj.com]

• 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]

• 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]

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 Treatment Options: No general treatment is available although repair of some specific malformations is possible. [disorders.eyes.arizona.edu]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

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]

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]

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]

The etiology remains unknown to date. [unboundmedicine.com]

The etiology remains unknown: all genes evaluated in affected patients were normal. [findzebra.com]

[…] 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]

Genetic epidemiology 34 (6), 591-602, 20104162010Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ... [scholar.google.com]

[…] 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]

Pathophysiology Unknown. Diagnosis Based on described clinical features. [accessanesthesiology.mhmedical.com]

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]

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]