craniofacial-deafness-hand syndrome

Craniofacial-Deafness-Hand Syndrome (CDHS) Description

Craniofacial-deafness-hand syndrome is a rare genetic disorder characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The condition is caused by mutations in the PAX3 gene [12].

Distinctive Facial Features:

• Flat facial profile with normal calvarium
• Hypertelorism (increased distance between the eyes)
• Small downslanting palpebral fissures (eyelids) with an antimongoloid slant
• Hypoplastic nose with button tip and slitlike nares
• Small, pursed mouth

Profound Hearing Loss:

• Severe sensorineural hearing loss/deafness is a hallmark of CDHS [6]

Hand Abnormalities:

• Ulnar deviations and contractures of the hand
• Permanently bent third, fourth, and fifth fingers (camptodactyly) which can limit finger movement and lead to joint deformities called contractures

CDHS is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition [5]. It is extremely rare, with only one family described in medical literature to date [11].

References: [1] - [13]

Distinctive Facial Features and Hand Abnormalities

Craniofacial-deafness-hand syndrome (CDHS) is characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The facial features may include a flat facial profile, normal calvarium, hypertelorism, small nose, and other dysmorphic characteristics [3][5].

Additional Signs and Symptoms

Other signs and symptoms of CDHS may include:

• Aplasia/hypoplasia involving the nose
• Blepharophimosis (a condition where the eyelids are abnormally small)
• Depressed nasal bridge
• Hand abnormalities, such as absent or hypoplastic thumbs [7]

Hearing Loss

Profound hearing loss is a common feature of CDHS. The external auditory canals may be atretic, which means they are closed or absent [4].

It's worth noting that the phenotypic description of CDHS is based on an analysis of the biomedical literature and uses the Orphanet nomenclature [6].

Diagnostic Tests for Craniofacial-Deafness-Hand Syndrome

Craniofacial-deafness-hand syndrome (CDHS) is a rare genetic disorder that requires accurate diagnosis to provide appropriate care and management. The following diagnostic tests can help identify CDHS:

• Full gene sequencing: This test involves analyzing the PAX3 gene, which is associated with CDHS. Full gene sequencing can detect mutations or deletions in the gene, confirming the diagnosis (CEN4GEN Institute for Genomics and Molecular Diagnostics) [6].
• Deletion/duplication analysis: This test can identify alterations in the genomic region that includes the PAX3 gene. It is typically performed on buccal swab specimens or whole blood samples (from OMIM) [5].

These diagnostic tests are crucial for confirming CDHS and ruling out other conditions with similar symptoms. A healthcare professional, such as a geneticist or a medical geneticist, can order these tests to aid in the diagnosis.

References:

• CEN4GEN Institute for Genomics and Molecular Diagnostics [6]
• OMIM (Online Mendelian Inheritance in Man) [5]

Treatment Options for Craniofacial-Deafness-Hand Syndrome

Craniofacial-deafness-hand syndrome (CDHS) is a rare genetic disorder that affects the development of the face, ears, and hands. While there is no cure for CDHS, various treatment options are available to manage its symptoms.

Perchlorate and Nitrate Treatment

One potential treatment option for CDHS is perchlorate and nitrate therapy. This involves using ion exchange integrated with biological brine to remove iodide from the body (Reference: [7]). However, it's essential to note that this treatment is still experimental and requires further research.

Surgical Release of Contractures

Another possible treatment option for CDHS is surgical release of contractures. This procedure can help alleviate joint deformities and improve hand movement (Reference: [11]). However, the effectiveness of this treatment may vary depending on individual cases.

Current Treatment Status

It's essential to note that there is no established cure for CDHS. Presently, treatment options are focused on managing symptoms and improving quality of life (Reference: [10]).

References

• [7] Drugs & Therapeutics for Craniofacial-Deafness-Hand Syndrome
• [11] Treatment Options: Surgical release of contractures could be considered.
• [10] The complications of Craniofacial-Deafness-Hand Syndrome may include: Hearing loss; Emotional stress; Complications may occur with or without treatment, and in some cases, due to treatment also.

The differential diagnosis for craniofacial-deafness-hand syndrome (CDHS) includes several conditions that present with similar symptoms, such as distinctive facial features, hearing loss, and hand abnormalities.

• Waardenburg syndrome: This is a genetic disorder that can be confused with CDHS due to its overlapping symptoms. Waardenburg syndrome is characterized by hearing loss, skin and hair pigmentation changes, and other physical anomalies [10].
• Treacher Collins syndrome: This rare genetic disorder affects the development of bones and other tissues in the face, leading to facial abnormalities, hearing loss, and other symptoms that can be similar to CDHS [9].
• Branchiootorenal syndrome: This is a genetic disorder that affects the development of the ears, eyes, and kidneys, leading to symptoms such as hearing loss, ear anomalies, and kidney problems. The facial features and hand abnormalities in this condition can also be similar to those seen in CDHS [14].
• Goldenhar syndrome: Also known as oculo-auriculo-vertebral (OAV) syndrome, this rare genetic disorder affects the development of the ears, eyes, and spine, leading to symptoms such as hearing loss, ear anomalies, and facial abnormalities that can be similar to those seen in CDHS [9].

It's essential to note that a definitive diagnosis of CDHS requires genetic testing to confirm mutations in the PAX3 gene. A team of providers, including geneticists, audiologists