chromosome 6pter-p24 deletion syndrome

Chromosome 6pter-p24 Deletion Syndrome: A Rare Genetic Disorder

Chromosome 6pter-p24 deletion syndrome, also known as distal monosomy 6p, is a rare genetic disorder caused by the deletion of the distal part of chromosome 6p. This condition is characterized by a distinct clinical picture that includes:

• Intellectual deficit: Individuals with this syndrome often experience intellectual disability or developmental delays [1][2].
• Ocular abnormalities: Eye problems are common, including cataracts and other vision impairments [3][4].
• Hearing loss: Hearing difficulties are also frequently reported [5][6].
• Facial dysmorphism: Facial features may be abnormal, with characteristics such as a small head size, short stature, and distinctive facial features [7][8].

This syndrome is caused by the deletion of a specific region on chromosome 6p, which affects various genes involved in development and function. The symptoms and severity of the condition can vary widely among affected individuals.

References:

[1] Chromosome 6pter-p24 deletion syndrome (OMIM #612582) [2] de Vos et al. (2017) [3] C R O G Chromosome 6pter-p24 deletion syndrome; Clinical features [4] Introduction: Chromosome 6pter-p24 deletion syndrome (OMIM #612582) [5] Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation. [6] Definition. Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. [7] CHROMOSOME 6pter-p24 DELETION SYNDROME INHERITANCE - Isolated cases [8] Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.

Clinical Features of Chromosome 6pter-p24 Deletion Syndrome

Chromosome 6pter-p24 deletion syndrome, also known as terminal deletion syndrome, is a rare genetic disorder characterized by various clinical features. The signs and symptoms of this condition can vary in severity and may include:

• Eye problems: Anterior segment dysgenesis, Axenfeld anomaly, blue sclerae, exotropia, hypermetropia, hypertelorism, irido-corneo-trabecular dysgenesis [1]
• Dental abnormalities: Abnormal dental morphology, cleft upper lip, dental crowding, depressed nasal bridge, downslanted palpebral fissures [2]
• Developmental delay and learning difficulties: Developmental delay, need for learning support, speech delay or difficulty [8]
• Hearing loss: Sensorineuronal hearing loss [6]
• Heart problems: Complex heart defects [7]
• Dysmorphic features: Hypertelorism, broad forehead, down-slanting palpebral fissures, low-set ears, midface hypoplasia, and micrognathia [3]

Other common clinical features include structural eye defects, anterior eye chamber abnormalities, palatal and dental abnormalities, and various other physical anomalies.

It's worth noting that the severity and presentation of chromosome 6pter-p24 deletion syndrome can vary significantly among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is essential for accurate diagnosis and management of this condition.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8

Chromosome

Current Treatment Options for Chromosome 6pter-p24 Deletion Syndrome

Unfortunately, there is no specific treatment available for chromosome 6pter-p24 deletion syndrome, as it is a rare and complex genetic disorder. However, the management of this condition typically involves a multidisciplinary approach to address various medical and developmental issues.

• Prenatal diagnosis: In cases where the syndrome is diagnosed prenatally, the pregnancy may be terminated due to the severity of the condition [1].
• Genetic counseling: Genetic counselors can provide families with information about the syndrome, its inheritance pattern, and the risks of passing it on to future generations [5].
• Medical management: Individuals with chromosome 6pter-p24 deletion syndrome often require ongoing medical care to manage associated health issues, such as developmental delays, intellectual disability, and physical abnormalities [6].
• Developmental support: Early intervention and developmental support services can help individuals with this condition reach their full potential and improve their quality of life [7].

Current Research and Future Directions

While there is no specific treatment available for chromosome 6pter-p24 deletion syndrome, researchers are actively exploring new therapeutic approaches to address the underlying genetic mechanisms.

• Gene therapy: Researchers are investigating gene therapy as a potential treatment option for this condition. Gene therapy involves replacing or repairing the faulty gene responsible for the syndrome [8].
• Targeted therapies: Targeted therapies, such as small molecule inhibitors and RNA-based therapies, may also be explored to address specific aspects of the syndrome [9].

References

[1] Shi Q (2020) - Case report: Terminal 6p deletion syndrome in a fetus. [Context #3]

[5] OMIM (2024) - Chromosome 6pter-p24 deletion syndrome. [Context #5]

[6] Rraku E (2023) - Clinical consequences of terminal 6p deletions. [Context #7]

[7] Hsiao MC (2023) - Prenatal diagnosis and management of terminal 6pter-p24 deletion syndrome. [Context #9]

[8] Le H (2023) - Introduction to the 6pter-p24 deletion syndrome. [Context #10]

[9] Shi Q (2020) - Case report: Terminal 6p deletion syndrome in a fetus. [Context #3]

Chromosome 6pter-p24 deletion syndrome has a differential diagnosis that includes other genetic disorders and syndromes that share similar phenotypic characteristics.

• Axenfeld-Rieger syndrome type 3 (RIEG3; 602482) is one of the conditions that shows phenotypic overlap with chromosome 6pter-p24 deletion syndrome [4].
• Branchiooculofacial syndrome (BOFS; 113620), caused by mutation or deletion of the TFAP2A gene on chromosome 6p24.3, centromeric to the deletion interval, is another condition that shares similar features [1][4].
• Iridocorneal endothelial syndrome (ICE; 600829) and Dandy-Walker malformation are also conditions that have been associated with chromosome 6pter-p24 deletion syndrome in some cases [10][11].

These differential diagnoses are important to consider when evaluating patients with suspected chromosome 6pter-p24 deletion syndrome, as they can help guide further diagnostic testing and management decisions.

• The FOXC1 gene, which is deleted in chromosome 6pter-p24 deletion syndrome, has also been associated with Axenfeld-Rieger syndrome type 3 (RIEG3; 602482) [13].
• Chromosome 6pter-p24 deletion syndrome shares phenotypic similarities with ARS type 3, and the FOXC1 gene is a key factor in this overlap [13].

It's worth noting that each of these conditions has its own unique characteristics, and a comprehensive evaluation by a qualified healthcare professional is necessary to determine the correct diagnosis.

References: [1] Chromosome 6pter-p24 deletion syndrome (OMIM #612582) [4] Axenfeld-Rieger syndrome type 3 (RIEG3; 602482) and branchiooculofacial syndrome (BOFS; 113620) [10] Iridocorneal endothelial syndrome (ICE; 600829) [11] Dandy-Walker malformation [13] FOXC1 gene and Axenfeld-Rieger syndrome type 3 (RIEG3; 602482)