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Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome
FieldValue
synonymsBlepharophimosis-ptosis-intellectual disability syndrome
nameKaufman oculocerebrofacial syndrome
imagePhoto of the people with Kaufman oculocerebrofacial syndrome.jpg
altThis photo shows patients with Kaufman oculocerebrofacial syndrome, who have typical facial features, such as: blepharophimosis and droopy eyelid, sparse hair, sparse and arched eyebrows, elongated philtrum, anteverted nostrils, receding lower jaw, and low-set and posteriorly angulated ears rotated ears. Individuals 2 (B) and 3 (C) also have upward-slanted palpebral fissures. In picture E, the photo shows an MRI of individual 1 (A) that has Chiari I malformation, a small corpus callosum, and microcephaly.
captionThis photo shows patients with Kaufman oculocerebrofacial syndrome, who have typical facial features, such as: blepharophimosis and droopy eyelid, sparse hair, sparse and arched eyebrows, elongated philtrum, anteverted nostrils, receding lower jaw, and low-set and posteriorly angulated ears rotated ears. Individuals 2 (B) and 3 (C) also have upward-slanted palpebral fissures. In picture E, the photo shows an MRI of individual 1 (A) that has Chiari I malformation, a small corpus callosum, and microcephaly.
image_size320px
symptomsArachnodactyly
causesMutation in the UBE3B gene
diagnosisGrowth assessment, Thyroid function evaluation
treatmentThyroid hormone replacement, Speech therapy

Kaufman oculocerebrofacial syndrome, also known as Blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe intellectual disability, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate. It was characterized in 1971; eight cases had been identified as of 1995. To date, the amount of cases is disputed, with sources claiming the number ranges from 14 to 31.

Symptoms and signs

The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:

  • High palate
  • Microcephaly
  • Constipation
  • Intellectual disability
  • Muscular hypotonia
  • Nystagmus

Cause

The cause of this condition is apparently due to mutation in the UBE3B gene and is inherited via autosomal recessive manner. This gene is located at molecular location- base pairs 109,477,410 to 109,543,628 and position 24.11 on chromosome 12.

Genetics

Ubiquitin protein

The mechanism (or pathogenesis) of Kaufman oculocerebrofacial syndrome appears to begin due to a mutation in the E3 ubiquitin protein ligase. (UBE3B).

One finds that the normal mechanism of UBE3B gene is important in the ubiquitin-proteasome system. The aforementioned system helps to remove proteins that have degraded.

However, when not working properly due to the mutation in the UBE3B gene(at least 15 mutations) results in an unstable UBE3B protein which has a negative effect on the ubiquitin-proteasome system.

Diagnosis

Smith–Lemli–Opitz syndrome(or 7-dehydrocholesterol reductase deficiency)

The diagnosis of Kaufman oculocerebrofacial syndrome can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition:

  • Growth assessment
  • Thyroid function evaluation
  • Kidney ultrasound
  • Echocardiogram

Differential diagnosis

Kaufman oculocerebrofacial syndrome differential diagnosis consists of:

  • Ohdo syndrome
  • Smith–Lemli–Opitz syndrome
  • Maat–Kievit–Brunner syndrome
  • Chromosome 3pter-p25 deletion syndrome

Management

Treatment for this condition entails surveillance of growth and contractures. Furthermore, the following are treatment options:

  • Thyroid hormone replacement
  • Speech therapy
  • Hearing aids

References

References

  1. "Kaufman oculocerebrofacial syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
  2. Basel-Vanagaite, Lina. (1993). "GeneReviews". University of Washington, Seattle.
  3. (1971). "An oculocerebrofacial syndrome.". Birth Defects Orig Artic Ser.
  4. (1995). "Kaufman oculocerebrofacial syndrome in a girl of 15 years.". Am J Med Genet.
  5. "Kaufman Oculocerebrofacial Syndrome".
  6. "Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum".
  7. Winter, Robin M.. (2013). "Multiple Congenital Anomalies: A Diagnostic Compendium". Springer.
  8. "OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS".
  9. Reference, Genetics Home. "UBE3B gene".
  10. Reference, Genetics Home. "Kaufman oculocerebrofacial syndrome".
  11. Nandi, Dipankar. (2006). "The ubiquitin-proteasome system". Journal of Biosciences.
  12. "Kaufman Oculocerebrofacial Syndrome, Sequencing UBE3B Gene - Tests - GTR - NCBI".
Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

autosomal-recessive-disorders congenital-disorders rare-syndromes genetic-disorders-with-omim-but-no-gene syndromes-with-craniofacial-abnormalities
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