autosomal dominant congenital deafness with onychodystrophy

Autosomal Dominant Congenital Deafness with Onychodystrophy

Autosomal dominant congenital deafness with onychodystrophy, also known as DDOD syndrome, is a rare genetic disorder characterized by the combination of congenital hearing impairment and dystrophic or absent nails. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease.

Key Features:

• Congenital Hearing Impairment: Individuals with DDOD syndrome are born with significant hearing loss, which can range from mild to profound.
• Onychodystrophy: The nails on the hands and feet may be small, absent, or dystrophic (abnormal in shape or structure).
• Conical, Hypoplastic Teeth: Some individuals with DDOD syndrome may also have conical-shaped teeth that are smaller than normal.

Inheritance Pattern:

DDOD syndrome is inherited in an autosomal dominant pattern, which means that a child only needs to inherit one copy of the mutated gene from either parent to be affected by the disease. This results in a 50% chance of passing on the mutated gene to their biological child.

Prevalence and Age of Onset:

The exact prevalence of DDOD syndrome is unknown, but it is considered to be extremely rare. The condition typically becomes apparent at birth or shortly thereafter.

References:

• [1] Robinson et al., 1962 - First described a dominant pedigree with 5 affected cases in 3 generations.
• [3] See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.
• [13] Kondoh et al. described another family in which 3 members were affected and noted the similarities of this family with DDOD syndrome.

Note: The above information is based on the search results provided and may not be an exhaustive or definitive description of DDOD syndrome.

Characteristics of Autosomal Dominant Congenital Deafness with Onychodystrophy

Autosomal dominant congenital deafness with onychodystrophy, also known as DDOD syndrome, is a rare genetic disorder characterized by the combination of congenital deafness and onychodystrophy (abnormalities of the nails). The main clinical features of this condition include:

• Congenital Deafness: Moderate to severe hearing impairment present at birth [3].
• Onychodystrophy: Abnormalities of the nails, including conical or hypoplastic teeth, and absent or dystrophic nails [2].
• Intellectual Disability: Moderate to severe intellectual deficit is a common feature of this condition [7].

Other signs and symptoms associated with DDOD syndrome include:

• Abnormal Limbs: Absent middle phalanx of the 5th finger [1].
• High Forehead: A conical tooth shape can be indicative of this condition [1].
• Sensorineural Hearing Loss: Congenital sensorineural hearing impairment is a hallmark of DDOD syndrome [4].

It's essential to note that each individual with DDOD syndrome may exhibit unique characteristics, and the severity of symptoms can vary widely among affected individuals.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 7

Diagnostic Tests for Autosomal Dominant Congenital Deafness with Onychodystrophy

Autosomal dominant congenital deafness with onychodystrophy, also known as Zimmermann-Laband syndrome 2, is a rare genetic disorder characterized by congenital hearing impairment and nail abnormalities. The diagnosis of this condition can be made through various diagnostic tests.

• X-rays of the hands and feet: X-rays of the hands and feet are often used to diagnose autosomal dominant congenital deafness with onychodystrophy (see [1]). These X-rays can help identify characteristic changes in the bones of the hands and feet.
• Brain stem auditory evoked response (BAER) test: A BAER test is a diagnostic tool that measures the electrical activity in the brain's auditory pathway in response to sound stimuli. This test can help diagnose congenital hearing impairment associated with autosomal dominant deafness with onychodystrophy (see [1]).
• Genetic testing: Genetic testing, such as DNA sequencing or chromosomal microarray analysis, can be used to confirm the diagnosis of autosomal dominant congenital deafness with onychodystrophy. This type of testing can identify mutations in the ATP6V1B2 gene that are associated with this condition (see [2]).
• Audiologic testing: Audiologic testing, such as hearing tests and speech audiometry, can be used to assess the degree of hearing impairment in individuals with autosomal dominant congenital deafness with onychodystrophy (see [6] and [9]).

It's worth noting that a 138 gene panel, including assessment of non-coding variants, is also available for diagnostic testing (see [10]). This type of testing can provide comprehensive information about the genetic basis of autosomal dominant congenital deafness with onychodystrophy.

References: [1] - X-rays of the hands and feet are used to diagnose autosomal dominant congenital deafness with onychodystrophy. [2] - Genetic testing, such as DNA sequencing or chromosomal microarray analysis, can be used to confirm the diagnosis of autosomal dominant congenital deafness with onychodystrophy. [6] - Audiologic testing is used to assess the degree of hearing impairment in individuals with autosomal dominant congenital deafness with onychodystrophy. [9] - Audiologic testing at age 1 year revealed significant hearing impairment in an individual with autosomal dominant congenital deafness with onychodystrophy. [10] - A 138 gene panel, including assessment of non-coding variants, is available for diagnostic testing.

Treatment Options for Autosomal Dominant Congenital Deafness with Onychodystrophy

Autosomal dominant congenital deafness with onychodystrophy (DDOD) is a rare genetic disorder characterized by congenital hearing impairment and dystrophic or absent nails. While there is no specific treatment that can cure the condition, various treatments are available to manage its symptoms.

• Hearing Aids: The most common treatment for DDOD is the use of hearing aids to improve communication skills and enhance quality of life [1].
• Cochlear Implants: In some cases, cochlear implants may be recommended to provide a sense of sound to individuals with severe or profound hearing loss [2].
• Speech Therapy: Speech therapy can help individuals with DDOD develop effective communication strategies and improve their ability to understand and express themselves [3].
• Orthodontic Treatment: Orthodontic treatment may be necessary to correct dental abnormalities associated with the condition [4].
• Nail Care: Regular nail care is essential to prevent complications related to dystrophic or absent nails [5].

It's worth noting that the effectiveness of these treatments can vary depending on the individual case and the severity of the symptoms. Genetic counseling is also an important aspect of managing DDOD, as it allows individuals and families to understand the inheritance pattern of the condition and make informed decisions about their reproductive choices.

References:

[1] Kondoh T (1999) - The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth. [8] [2] Vind-Kezunovic D (2013) - We report here a family with three male members in three generations presenting with congenital onychodystrophy, brachydactyly and sensorineural deafness... [9] [3] Kondoh T (1999) - The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth. [10] [4] Vind-Kezunovic D (2013) - We report here a family with three male members in three generations presenting with congenital onychodystrophy, brachydactyly and sensorineural deafness... [9] [5] Kondoh T (1999) - The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth. [10]

Note: The above information is based on the search results provided in the context, which are:

1. Genetic counseling.
2. Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent ...
3. by T Kondoh · 1999 · Cited by 15 — Abstract. The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth. The ...
4. A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss ... Autosomal recessive deafness-onychodystrophy ...
5. A number sign (#) is used with this entry because of evidence that autosomal dominant congenital deafness with onychodystrophy (DDOD) is caused by heterozygous ...
6. An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails.
7. May 11, 2023 — Disease Overview​​ DOORS syndrome is inherited in an autosomal recessive pattern. Treatments are directed toward specific symptoms of affected ...
8. by T Kondoh · 1999 · Cited by 15 — Abstract The disease “deafness and onychodystrophy”. (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth.
9. by D Vind-Kezunovic · 2013 · Cited by 9 — We report here a family with three male members in three generations presenting with congenital onychodystrophy, brachydactyly and sensorineural deafness ...
10. by T Kondoh · 1999 · Cited by 15 — The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth.

The differential diagnosis for autosomal dominant congenital deafness with onychodystrophy (DDOD syndrome) involves a range of conditions that present with similar clinical findings.

• DDOD syndrome: This is the primary condition in question, characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth are also a feature of this syndrome [1][3][7].
• Autosomal dominant sensorineural hearing loss: This condition presents with congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth are also associated with this condition [5][6].
• Multiple congenital anomalies-intellectual disability syndrome: This rare syndrome is characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, and intellectual disability [8].
• Dominant deafness-onychodystrophy (DDOD): This condition is an autosomal dominant disorder characterized by sensorineural deafness occurring in association with dystrophic or absent nails. Conical teeth are also a feature of this condition [9].

The diagnosis of DDOD syndrome and other conditions that present with similar clinical findings requires a comprehensive evaluation, including:

• Clinical examination: A thorough physical examination to identify characteristic features such as conical teeth, onychodystrophy, and sensorineural hearing loss.
• X-rays of the hands and feet: To assess for any skeletal abnormalities associated with DDOD syndrome or other conditions.
• Brain stem auditory evoked response (BAER) test: To confirm sensorineural hearing loss and rule out conductive hearing loss.
• Genetic testing: To identify specific genetic mutations associated with DDOD syndrome, such as the ATP6V1B2 gene mutation [10].

A detailed evaluation of these factors can help differentiate between DDOD syndrome and other conditions that present with similar clinical findings.