Kaufman oculocerebrofacial syndrome

Kaufman Oculocerebrofacial Syndrome: A Rare Genetic Disorder

Kaufman oculocerebrofacial syndrome is a rare autosomal recessive congenital disorder characterized by severe intellectual disability, distinctive craniofacial features, and various physical abnormalities. The syndrome was first described in 1971 [3][5].

Key Features:

• Severe intellectual disability
• Distinctive craniofacial features, including:
  • Microcephaly (small head size)
  • Brachycephaly (short skull shape)
  • Upward-slanting palpebral fissures (eyes)
  • Eye abnormalities
  • Highly arched palate
• Prenatal-onset microcephaly, hypotonia, and growth deficiency [10][12]
• Feeding issues, ocular abnormalities, hearing impairment, and respiratory tract abnormalities are common [10][12]

Other Possible Features:

• Abnormal lip morphology
• Ocular abnormalities can include structural problems
• Hearing loss
• Ptosis (drooping eyelids)
• Blepharophimosis (eyelid abnormality)
• Hypertelorism (increased distance between eyes)
• Cleft palate
• Multiple renal cysts
• Absent nails

Causes:

Kaufman oculocerebrofacial syndrome is caused by mutations in the UBE3B gene, which provides instructions for making a protein that plays a crucial role in various cellular processes [1][4].

References:

[1] Basel-Vanagaite et al. (2012) - Exome sequencing of 2 unrelated individuals with Kaufman oculocerebrofacial syndrome identified the UBE3B gene as the only gene with rare or unique biallelic damaging variants in both individuals.

[3] Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare genetic disorder characterized by severe intellectual disability and distinctive craniofacial features.

[4] The UBE3B gene provides instructions for making a protein that plays a crucial role in various cellular processes.

[10] Kaufman oculocerebrofacial syndrome (KOS) is characterized by developmental delay, severe intellectual disability, and distinctive craniofacial features. Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency.

[12] Kaufman oculocerebrofacial syndrome (KOS) is characterized by developmental delay, severe intellectual disability, and distinctive craniofacial features. Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency.

Kaufman oculocerebrofacial syndrome (KOS) is a rare genetic disorder characterized by severe intellectual disability, distinctive craniofacial features, and various other signs and symptoms. Here are some of the common signs and symptoms associated with KOS:

• Severe Intellectual Disability: The most prominent clinical finding in people with KOS is severe intellectual disability, which can range from mild to profound.
• Distinctive Craniofacial Features: People with KOS often have a distinctive pattern of facial features, including:
  • Highly arched eyebrows
  • Low-set ears
  • Small earlobes
  • A very small head (microcephaly)
  • Narrow nasal bridge
  • Long philtrum
  • Narrow or thin mouth
• Short Stature: Many people with KOS experience short stature, which can be a result of prenatal growth retardation.
• Hearing Loss: Hearing loss is a common symptom in individuals with KOS, ranging from mild to severe.
• Abnormalities of the Heart, Respiratory Tract, Gastrointestinal Tract, and Kidneys: People with KOS may experience various abnormalities in these organs, including heart defects, respiratory tract issues, gastrointestinal problems, and kidney issues.
• Microcephaly: Prenatal-onset microcephaly is a common feature in individuals with KOS, which can lead to delayed physical growth both before and after birth.
• Hypotonia: Hypotonia (low muscle tone) is often present in people with KOS, leading to feeding issues and other developmental delays.
• Ocular Abnormalities: Structural abnormalities of the eyes, such as blepharophimosis (eyelid abnormality), epicanthal folds, and upslanted palpebral fissures, are common in individuals with KOS.

These signs and symptoms can vary in severity and may be present at birth or develop later in life. It's essential to note that each individual with KOS may experience a unique combination of these features. [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14]

Kaufman oculocerebrofacial syndrome (KOS) is a rare genetic disorder that affects multiple systems in the body. Diagnostic tests for KOS are crucial for confirming the diagnosis and providing appropriate management.

Comprehensive Genomic Testing

Comprehensive genomic testing, such as exome sequencing, can be used to diagnose KOS [1]. This type of testing involves analyzing the entire genome or a specific set of genes to identify any genetic mutations that may be causing the symptoms. Exome sequencing is most commonly used for this purpose.

Next-Generation Sequencing (NGS) Test

A next-generation sequencing (NGS) test can also be used to diagnose KOS [3]. This test involves analyzing the DNA sequence of specific genes or regions of the genome that are associated with KOS. The NGS test is a useful tool for identifying genetic mutations that may be causing the symptoms.

Multisystem Evaluation

A full multisystem evaluation should be performed following the diagnosis to assess growth, developmental progress, vision, hearing, and contractures/scoliosis [4]. This comprehensive evaluation helps in understanding the extent of the disorder and planning appropriate management.

Genetic Testing

Specific genetic testing may also be suggested by specialists to help reach a diagnosis [8]. A test for the gene change is likely required for confirmation of the diagnosis. The intellectual disability associated with KOS presents lifelong challenges, and early diagnosis through genetic testing can facilitate timely intervention and support.

In summary, diagnostic tests for Kaufman oculocerebrofacial syndrome include comprehensive genomic testing (exome sequencing), next-generation sequencing (NGS) test, multisystem evaluation, and specific genetic testing. These tests help in confirming the diagnosis and planning appropriate management for individuals with KOS.

References: [1] Comprehensive genomic testing does not require the clinician to determine which gene is likely involved. [3] This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Kaufman ... [4] Full multisystem evaluation should be performed following the diagnosis, and growth, developmental progress, vision, hearing and contractures/scoliosis should ... [8] Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.

Treatment Options for Kaufman Oculocerebrofacial Syndrome

Kaufman oculocerebrofacial syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and various physical abnormalities. While there is no cure for this condition, various treatment options can help manage its symptoms.

• Anti-seizure medication: Treatment with anti-seizure medications such as carbidopa/levodopa, lamotrigine, and benzodiazepines has been reported to be effective in managing seizures and dystonic attacks [13].
• Trihexyphenidyl: This medication can be effective as an anti-tremor drug.
• Other treatments: Acetazolamide, flunarizine, valproate, and levetiracetam have been reported to be ineffective in treating Kaufman oculocerebrofacial syndrome.

It's essential to note that the effectiveness of these treatment options may vary depending on individual cases. A healthcare professional should be consulted for personalized advice and guidance.

References:

• [13] Trihexyphenidyl can be effective as an anti-tremor drug.
• [13] Treatment with carbidopa/levodopa, lamotrigine, and benzodiazepines can be effective for treatment of dystonic attacks or seizures.

Kaufman oculocerebrofacial syndrome (KOS) has a differential diagnosis that includes several other syndromes and conditions. Some of the key differential diagnoses for KOS are:

• Ohdo syndrome: This is a rare genetic disorder characterized by intellectual disability, distinctive craniofacial features, and eye problems [4].
• Smith–Lemli–Opitz syndrome: This is a metabolic disorder that affects the production of cholesterol and can cause developmental delay, intellectual disability, and distinctive facial features [3][6].
• Maat–Kievit syndrome: This is a rare genetic disorder characterized by intellectual disability, distinctive craniofacial features, and eye problems [4].

It's worth noting that KOS has distinct craniofacial features, hypotonia, failure to thrive, microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, and absent nails [5][7][8][9]. These characteristics can help differentiate KOS from other syndromes and conditions.

References: [3] Jan 1, 2017 — Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems ( oculo-), intellectual disability (-cerebro-), ... [4] Differential diagnosis. edit. Kaufman oculocerebrofacial syndrome differential diagnosis consists of: Ohdo syndrome; Smith–Lemli–Opitz syndrome; Maat–Kievit ... [5] by A Kariminejad · 2017 · Cited by 22 — We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails. [6] Jan 1, 2017 — Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems ( oculo-), intellectual disability (-cerebro-), ... [7] Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by distinct craniofacial features, hypotonia, failure to ... [8] Polymalformative syndrome characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral fissures, blepharophimosis, highly ... [9] Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by distinct craniofacial features, hypotonia, failure to thrive, ...