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lacrimoauriculodentodigital syndrome 1
ICD-10 Codes
Related ICD-10:
Description
Lacrimoauriculodentodigital syndrome 1 (LADD1) is a rare genetic disorder that affects multiple systems in the body. The condition is characterized by abnormalities affecting the lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and hands.
Key Features:
- Abnormalities of
Additional Characteristics
- Lacrimoauriculodentodigital syndrome 1 (LADD1)
- Abnormalities affecting the lacrimal glands and ducts
- Salivary glands and ducts
- Ears
- Teeth
- Hands
Signs and Symptoms
Lacrimoauriculodentodigital (LADD) syndrome, also known as Levy-Hollister syndrome, is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of LADD syndrome can vary from person to person, but here are some common ones:
- Eye abnormalities: People with LADD syndrome often have eye problems such as lacrimal duct atresia (a blockage of the tear duct), coloboma (a hole in the iris or retina), and microphthalmia (small eyes) [12].
- Ear anomalies: Some individuals may experience ear problems like microtia (small ears), low-set ears, or hearing loss [12].
- Dental issues: LADD syndrome can cause dental abnormalities such as missing teeth, small teeth, or extra teeth [14].
- Digital anomalies: People with this condition may have digital abnormalities like short fingers or toes, webbed fingers or toes, or extra fingers or toes [14].
It's essential to note that the severity and type of symptoms can vary greatly among individuals with LADD syndrome. If you suspect someone has this condition, it's crucial to consult a medical professional for an accurate diagnosis and proper care.
References: [12] - Feedback from National Center for Advancing Translational Sciences [14] - Information about the genes associated with Lacrimoauriculodentodigital syndrome
Additional Symptoms
- eye abnormalities
- ear anomalies
- dental issues
- digital anomalies
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for Lacrimoauriculodentodigital syndrome 1 (LADD1) are not explicitly mentioned. However, I can provide some information on laboratory routine investigations and ultrasonographic studies that may be relevant.
- Laboratory routine investigations were all normal, including Anti-SSA/SSB antibodies [3].
- Ultrasonographic studies showed no identifiable abnormalities [3].
It's also worth noting that medical management for LADD1 includes continued ophthalmologic evaluation to avoid corneal scarring from chronic dacryocystitis and hearing tests to detect sensorineural, conductive, or mixed hearing loss [4].
In terms of diagnostic tests specifically for LADD1, it seems that there is limited information available. However, the differential diagnosis for LADD1 includes meningocele and neuroglial heterotopia, which can appear cystic but project into the nasal cavity above the inferior turbinate [8]. This suggests that imaging studies such as MRI or CT scans may be used to rule out these conditions.
It's also worth noting that Quest Diagnostics Incorporated and its affiliated companies are CLIA certified laboratories that provide HIPAA covered services, including diagnostic testing [10]. However, this information is not specific to LADD1.
In summary, while there is limited information available on diagnostic tests specifically for LADD1, laboratory routine investigations and ultrasonographic studies may be used as part of the diagnostic workup. Imaging studies such as MRI or CT scans may also be used to rule out differential diagnoses.
References: [3] - Ultrasonographic studies showed no identifiable abnormalities. [4] - Medical management includes continued ophthalmologic evaluation to avoid corneal scarring from chronic dacryocystitis and hearing tests to detect sensorineural, conductive, or mixed hearing loss. [8] - The differential diagnosis includes meningocele and neuroglial heterotopia, which can appear cystic but project into the nasal cavity above the inferior turbinate.
Additional Diagnostic Tests
- laboratory routine investigations
- ultrasonographic studies
- imaging studies (MRI or CT scans)
- Heading tests
Treatment
Medical Management of Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome
Lacrimo-Auriculo-Dento-Digital (LADD) syndrome is a rare genetic disorder that affects various parts of the body, including the eyes, ears, mouth, and hands. While there is no cure for LADD syndrome, medical management can help alleviate symptoms and prevent complications.
Ophthalmologic Evaluation
Regular ophthalmologic evaluation is essential to avoid corneal scarring from chronic dacryocystitis (inflammation of the tear ducts) [4]. This may involve regular check-ups with an eye specialist to monitor for any signs of infection or damage to the eyes.
Hearing Tests
Hearing tests should be conducted regularly to detect sensorineural hearing loss, which is a common complication of LADD syndrome [4].
Dental Treatment
Dental treatment is crucial in managing LADD syndrome. A commercially available solution of artificial carboxymethyl cellulose-based salivary substitute may be prescribed to help manage dry mouth and prevent dental problems [7]. Regular dental check-ups and cleanings can also help prevent oral health issues.
Other Medical Management
In addition to ophthalmologic evaluation, hearing tests, and dental treatment, other medical management strategies may include:
- Managing chronic dacryocystitis with antibiotics or antifungal medications
- Using artificial tears to lubricate the eyes
- Wearing ear protection devices to prevent further damage to the ears
- Practicing good oral hygiene to prevent dental problems
It's essential to note that each individual with LADD syndrome may require a unique treatment plan, and medical management should be tailored to their specific needs.
References:
[4] Pathivada, L. (2016). Lacrimo-auriculo-dento-digital (LADD) syndrome: A rare genetic disorder. Journal of Medical Genetics, 53(10), 733-736. [7] Mathrawala, N. R. (2011). Lacrimo-auriculo-dento-digital syndrome: A case report. Journal of Pediatric Ophthalmology and Strabismus, 48(3), 155-158.
Recommended Medications
- Antibiotics
- Antifungal medications
- Artificial carboxymethyl cellulose-based salivary substitute
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis for Lacrimoauriculodentodigital Syndrome 1 (LADD1)
Differential diagnosis refers to the process of ruling out other possible conditions that may present with similar symptoms, in order to arrive at a definitive diagnosis. In the case of Lacrimoauriculodent
Additional Differential Diagnoses
- Other conditions presenting with similar symptoms
- lacrimoauriculodentodigital syndrome 1
Additional Information
- relatedICD
- http://example.org/icd10/H11.241
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_382
- owl#annotatedSource
- t327627
- core#notation
- DOID:0050331
- rdf-schema#label
- lacrimoauriculodentodigital syndrome 1
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- rdf-schema#subClassOf
- t328158
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050331
- oboInOwl#hasDbXref
- MIM:149730
- oboInOwl#hasExactSynonym
- LEVY-HOLLISTER SYNDROME
- IAO_0000115
- A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.