lacrimoauriculodentodigital syndrome 3

Lacrimoauriculodentodigital syndrome-3 (LADD3) is a rare genetic disorder characterized by multiple congenital anomalies, including:

• Aplasia, atresia or hypoplasia of the lacrimal and salivary systems [1]
• Cup-shaped ears [2][11]
• Hearing loss [2][7]
• Dental anomalies, such as peg-shaped teeth [7][9]
• Digital anomalies, including clinodactyly (a curved finger) [7]

This syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. The lacrimal system consists of structures in the eye that produce and secrete tears, and its defects can lead to tear duct problems.

LADD3 syndrome is caused by genetic mutations, also known as pathogenic variants, which can be hereditary or occur spontaneously [13]. The exact prevalence of LADD3 syndrome is unknown, but it is considered a rare condition.

It's worth noting that the symptoms of LADD3 syndrome can vary in severity and may not always include all of the above-mentioned features. However, the presence of multiple congenital anomalies, particularly those affecting the lacrimal and salivary systems, ears, teeth, and fingers, is characteristic of this condition.

References: [1] OMIM summary by Milunsky et al., 2006 [2] LADD syndrome description from various sources [7] UU Inan's study on LADD syndrome (2006) [9] L Pathivada's study on LADD syndrome (no year specified) [11] Lacrimo-auriculo-dento-digital (LADD) syndrome definition [13] OMIM description of genetic mutations causing LADD syndrome

Based on the search results, here are the signs and symptoms of Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome:

• Abnormalities affecting the lacrimal and salivary glands [1]
• Longitudinal dysplasias of the upper extremities, including radial and ulnar deficiencies [3]
• Aplasia of the lacrimal and salivary glands (ALSG), presenting with symptoms such as:
  • Xerophthalmia (dry eyes) [4]
  • Xerostomia (dry mouth) [4]
  • Scarring of the conjunctiva [4]
  • Dental erosion [4]
• Hearing loss, which may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), or changes in the middle ear (conductive hearing loss) [6]
• Cup-shaped ears with hearing loss [5]
• Digital anomalies, such as syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers [2]

Note: The symptoms listed above are based on the search results provided. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.

References: [1] - Search result 1 [2] - Search result 2 [3] - Search result 3 [4] - Search result 8 [5] - Search result 5 [6] - Search result 6

Lacrimo-auriculo-dento-digital (LADD) syndrome can be diagnosed through a combination of clinical evaluation and diagnostic imaging studies.

• Ophthalmologic evaluation is essential to detect abnormalities in the eyes, such as chronic dacryocystitis, which can lead to corneal scarring [1].
• Hearing tests are necessary to identify sensorineural hearing loss, which is a common feature of LADD syndrome [4].
• Diagnostic imaging studies, including X-rays and CT scans, can help identify anomalies in the lacrimal and salivary glands, ears, and digits [7][9].
• Clinical evaluation by a multidisciplinary team of specialists, including ophthalmologists, otolaryngologists, dentists, and geneticists, is crucial to diagnose LADD syndrome accurately [5].

It's worth noting that the diagnosis of LADD syndrome can be challenging due to its rarity and variability in symptoms. However, with a thorough clinical evaluation and diagnostic imaging studies, it is possible to identify the characteristic features of this condition.

References: [1] Context 1: Lacrimo-auriculo-dento-digital (LADD) syndrome is an extremely rare genetic disorder characterized by abnormalities affecting the lacrimal and salivary glands ... [4] Context 4: Medical management includes continued ophthalmologic evaluation to avoid corneal scarring from chronic dacryocystitis; hearing tests to detect sensorineural, ... [7] Context 7: However, clinical evaluation and diagnostic imaging studies helped identify anomalies of the lacrimal and salivary glands, ears, and digits, indicating ... [9] Context 9: However, clinical evaluation and diagnostic imaging studies helped identify anomalies of the lacrimal and salivary glands, ears, and digits, indicating ...

Based on the provided context, it appears that there is limited information available on the specific drug treatment for Lacrimoauriculodentodigital Syndrome 3 (LADD3). However, I can provide some general information and insights related to this condition.

General Information

• LADD3 is a rare genetic disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies (summary by Milunsky et al., 2006).
• The condition is caused by genetic mutations, also known as pathogenic variants (Up-to-date treatment and research information; Patient registries; ... Orphanet).

Treatment Approach

• Medical management of LADD3 includes continued ophthalmologic evaluation to avoid corneal scarring from chronic dacryocystitis; hearing tests to detect sensorineural, conductive, or mixed hearing loss (Medical management includes continued ophthalmologic evaluation to avoid corneal scarring from chronic dacryocystitis; hearing tests to detect sensorineural, ...).
• A commercially available solution of artificial carboxymethyl cellulose-based salivary substitute was prescribed for a child with LADD3 (A commercially available solution of artificial carboxymethyl cellulose-based salivary substitute was prescribed. On the follow-up visit the child was not ...).

Current Research and Treatment

• Orphanet, an online database of rare diseases and orphan drugs, provides aggregated data coordinated by INSERM-US14 in Paris. This resource may offer up-to-date treatment and research information for LADD3.
• A study published in 2022 highlights the importance of thorough assessment of medical details when diagnosing and developing treatment plans for patients with LADD3 (Lacrimo-auriculo-dento-digital syndrome (LADD) is a congenital anomaly disorder that is characterized by aplasia, atresia, or hypoplasia of the lacrimal and ...).

Conclusion

While specific drug treatments for Lacrimoauriculodentodigital Syndrome 3 are not well-represented in the provided context, it appears that medical management and continued ophthalmologic evaluation are essential components of treatment. Additionally, a commercially available salivary substitute was prescribed for a child with LADD3. Further research and up-to-date information on this condition can be found through resources like Orphanet.

References: Milunsky et al., 2006 (summary by Milunsky et al., 2006). Up-to-date treatment and research information; Patient registries; ... Orphanet. Medical management includes continued ophthalmologic evaluation to avoid corneal scarring from chronic dacryocystitis; hearing tests to detect sensorineural, ...

Differential Diagnosis of Lacrimoauriculodentodigital Syndrome

Lacrimoauriculodentodigital (LADD) syndrome is a rare genetic disorder that can be challenging to diagnose. When considering the differential diagnosis for LADD syndrome, several conditions should be taken into account.

• Ectodermal dysplasias: These are a group of disorders that affect the development of ectodermal structures, such as the skin, hair, nails, teeth, and glands. Ectodermal dysplasias can present with similar symptoms to LADD syndrome, including hypoplasia/aplasia of lacrimal ducts/glands, dental anomalies, ear anomalies, and digital anomalies.
• Meningocele and neuroglial heterotopia: These conditions can also present with cystic structures that project into the nasal cavity above the inferior turbinate. However, they are typically associated with other symptoms such as hydrocephalus and developmental delays.
• Other ectodermal disorders: Conditions like LADD syndrome can be confused with other ectodermal disorders, such as focal dermal hypoplasia or epidermolysis bullosa. These conditions can present with similar skin and hair abnormalities.

Key Points to Consider

When considering the differential diagnosis for LADD syndrome, it is essential to take into account the following key points:

• Genetic mutations: LADD syndrome is caused by genetic mutations that affect the development of ectodermal structures.
• Hypoplasia/aplasia of lacrimal ducts/glands: This is a characteristic feature of LADD syndrome, and it can be used as a diagnostic criterion.
• Dental anomalies: Dental abnormalities are also common in LADD syndrome, and they can be used to support the diagnosis.

References

1. [7] by UU Inan · 2006 · Cited by 51 — The differential diagnosis includes meningocele and neuroglial heterotopia, which can appear cystic but project into the nasal cavity above the inferior ...
2. [8] by L Pathivada · Cited by 7 — It is characterized by hypoplasia/aplasia of lacrimal ducts/glands, dental anomalies, ear anomalies, and digital anomalies.
3. [9] All these anomalies may be seen as isolated or combined autosomal dominant traits. Our cases did not demonstrate a characteristic pattern profile5, 7; however, case 3 had cutaneous 2 to 3 syn- dactyly and case 2 had long fingers with thenar hy- poplasia, evidence that they had LADD syndrome. The differential diagnosis of LADD syndrome is simple.
4. [11] Thus, LADD syndrome should be considered in the differential diagnosis of ectodermal dysplasias and vice versa. ... Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome. Arch Otolaryngol Head Neck Surg. 1997; 123:97-99. Crossref. Scopus (11) PubMed. Google Scholar. 24.
5. [13] Lacrimo-auriculo-dento-digital syndrome with unilateral inner ear dysplasia and craniocervical osseous abnormalities: case report and review of literature Clin Neuroradiol . 2013 Sep;23(3):221-4. doi: 10.1007/s00062-012-0170-1.
6. [14] Otherwise, whole exome sequencing (WES) can be utilized when a clinical diagnosis of LADD syndrome is not made. WES can be used to diagnose patients with a suspected genetic condition who are not clinically diagnosed with a defined genetic syndrome. ... Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. The ...
7. [15] Here, we describe a 7-year-old boy with LADD syndrome, clinical and radiological findings, dental treatment undertaken, and its differential diagnosis.

Conclusion

In conclusion, the differential diagnosis for lacrimoauriculodentodigital (LADD) syndrome is complex and requires careful consideration of various conditions. By understanding the key points to consider and referencing relevant studies, healthcare professionals can make an accurate diagnosis and provide appropriate treatment for patients with LADD syndrome.