Kaufman oculocerebrofacial syndrome
Medical condition
From Wikipedia, the free encyclopedia
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.[1][3] It was characterized in 1971;[5] eight cases had been identified as of 1995.[6] To date, the number of cases is disputed, with sources claiming the number ranges from 14 to 31.[7][8]
| Kaufman oculocerebrofacial syndrome | |
|---|---|
| Other names | Blepharophimosis-ptosis-intellectual disability syndrome |
| |
| This 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. | |
| Symptoms | Arachnodactyly[1] |
| Causes | Mutation in the UBE3B gene[2] |
| Diagnostic method | Growth assessment, Thyroid function evaluation[3][4] |
| Treatment | Thyroid hormone replacement, Speech therapy[3] |
Symptoms and signs
The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:[1][9]
- 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.[2] This gene is located at molecular location- base pairs 109,477,410 to 109,543,628 and position 24.11 on chromosome 12.[10]
Genetics
The mechanism (or pathogenesis) of Kaufman oculocerebrofacial syndrome appears to begin due to a mutation in the E3 ubiquitin protein ligase. (UBE3B). [11]
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.[12][10]
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.[10]
Diagnosis
The diagnosis of Kaufman oculocerebrofacial syndrome can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition:[3][4]
- Growth assessment
- Thyroid function evaluation
- Kidney ultrasound
- Echocardiogram
Differential diagnosis
Kaufman oculocerebrofacial syndrome differential diagnosis consists of:[3]
- 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:[3]
