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Nance-Horan syndrome
ICD-10 Codes
Related ICD-10:
Description
Nance-Horan Syndrome: A Rare Genetic Disorder
Nance-Horan syndrome (NHS) is a rare X-linked dominant genetic disorder characterized by a combination of ocular, dental, and facial abnormalities.
- Ocular Abnormalities: NHS is primarily associated with congenital cataracts, which can lead to poor vision. Additional eye abnormalities may also be present, including microcornea (a small cornea) [1][2].
- Dental Anomalies: Dental anomalies are a hallmark of NHS, and individuals with the condition often experience teeth abnormalities such as hypodontia (fewer teeth than normal), supernumerary teeth (extra teeth), or other dental malformations [3][4].
- Facial Dysmorphism: Facial dysmorphism is another common feature of NHS, characterized by a range of facial abnormalities including a small nose, prominent forehead, and other distinctive features [5][6].
Additional Features
In some cases, individuals with NHS may also experience intellectual disability or mental retardation. However, this is not a universal feature of the condition.
- Intellectual Disability: Intellectual disability or mental retardation can occur in some individuals with NHS, although it is not a consistent feature [7][8].
Conclusion
Nance-Horan syndrome is a rare and complex genetic disorder characterized by ocular, dental, and facial abnormalities. While the exact prevalence of the condition is unknown, it is considered to be extremely rare.
References:
[1] Context 1: Feb 2, 2017 — It is primarily characterized by abnormalities of the teeth and clouding of the lens of the eyes (congenital cataracts), resulting in poor ...
[2] Context 2: It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small ...
[3] Context 3: Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial ...
[4] Context 8: Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental ...
[5] Context 3: Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial ...
[6] Context 6: a rare X-linked syndrome characterized by eye and teeth abnormalities, intellectual disability, and facial deformities.
[7] Context 4: Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental ...
[8] Context 9: Very rare congenital inherited disorder that combines congenital bilateral cataracts, dental anomalies, facial dysmorphism, and intellectual deficit.
Additional Characteristics
- facial dysmorphism
- intellectual disability
- dental anomalies
- ocular abnormalities
Signs and Symptoms
Primary Physical Characteristics
The primary physical characteristic associated with Nance-Horan syndrome in affected males is the presence of dense clouding (opacities) of the lens of both eyes at birth, also known as congenital bilateral nuclear cataracts [1]. This condition results in reduced visual acuity.
Additional Ocular Features
Other ocular features include:
- Microphthalmia
- Congenital cataract (present in 100% of cases)
- Bilateral, usually severe, dense and most often total cataract
- Microcornea (present in 96% of cases)
- Nystagmus (present in 93% of cases), sometimes associated with strabismus (43%)
Additional Symptoms
- Microcornea
- Congenital cataract
- Strabismus
- Microphthalmia
- Congenital bilateral nuclear cataracts
- Bilateral, usually severe, dense and most often total cataract
- nystagmus
Diagnostic Tests
Nance-Horan syndrome is a rare genetic disorder that can be challenging to diagnose. However, several diagnostic tests and methods have been identified to aid in the diagnosis of this condition.
- Clinical examination: A thorough physical examination by an ophthalmologist or a pediatrician is essential in identifying the characteristic features of Nance-Horan syndrome, such as cataracts, dental abnormalities, and other eye problems [1].
- Genetic testing: Genetic tests can be performed to confirm the diagnosis of Nance-Horan syndrome. These tests can identify mutations in the NHS gene, which is responsible for the condition [2].
- Blood tests: Blood tests may also be ordered to rule out other conditions that may present with similar symptoms [3].
- Radiological examination: Radiological examination, such as X-rays or CT scans, may be necessary to evaluate the extent of dental abnormalities and other skeletal features associated with Nance-Horan syndrome [4].
It is essential to note that a diagnosis of Nance-Horan syndrome can only be made by an ophthalmologist in collaboration with other specialists, such as pediatricians and geneticists. The diagnosis is usually made when cataracts are found in infant boys, but the full syndrome will often require further evaluation and collaboration with dental and other specialists [5].
References: [1] Context 8 [2] Context 4 [3] Context 7 [4] Context 9 [5] Context 8
Additional Diagnostic Tests
- Blood tests
- Genetic testing
- Clinical examination
- Radiological examination
Treatment
Treatment Options for Nance-Horan Syndrome
Nance-Horan syndrome, a rare genetic disorder, requires careful management and treatment to alleviate its symptoms. While there is no cure for the condition, various treatments can help improve the quality of life for those affected.
- Genetic counseling: As Nance-Horan syndrome is inherited in an X-linked semi-dominant pattern, genetic counseling plays a crucial role in understanding the risk of transmission to offspring and making informed decisions about family planning.
- Surgical treatment: In some cases, surgical intervention may be necessary to correct dental abnormalities, such as supernumerary teeth removal or orthodontic traction. For example, a study by Y Guven (2023) reported on the follow-up treatment of two years duration that included removal of supernumerary teeth and orthodontic traction of unerupted maxillary teeth till proper alignment was achieved [8].
- Medical management: The presence of cataracts and other eye-related issues may require medical attention, including surgery to treat both eyes, as in the case of Jazmin and Chris's experience with their son Chaz [5]. Additionally, pharmacological measures may be necessary to manage airway difficulties or fragile teeth [6].
- Oral surgery: In some cases, oral surgery may be required to address dental abscesses or other oral health issues associated with Nance-Horan syndrome. A study by H Li (2018) reported on a previously unreported association between the condition and spontaneous dental abscesses [10].
It is essential for individuals affected by Nance-Horan syndrome to work closely with their healthcare providers to develop a personalized treatment plan that addresses their unique needs.
References:
[1] Orphanet summary about Nance-Horan syndrome, including information on diagnosis, care, and treatment as well as other resources. [7]
[2] Y Guven (2023) - Follow-up treatment of two years duration included removal of supernumerary teeth and orthodontic traction of unerupted maxillary teeth till proper alignment was achieved. [8]
[3] A Mathur (2024) - Medical or surgical treatment provided to the patient, including Nance Horan syndrome symptoms. [9]
[4] H Li (2018) - A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses. [10]
Note: The above information is based on the search results provided in the context block.
Recommended Medications
- Genetic counseling
- Surgical treatment (e.g. removal of supernumerary teeth)
- Medical management (e.g. surgery for cataracts)
- Oral surgery (e.g. to address dental abscesses)
💊 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
Nance-Horan syndrome (NHS) has a differential diagnosis that includes several rare genetic disorders. Some of these conditions are:
- X-linked microphthalmia
- Lenz syndrome
- Oculo-facio-cardio-dental (OFCD) syndrome
- Oculo-cerebro-renal (Lowe) syndrome
These conditions share similar symptoms with NHS, such as congenital cataracts and dental anomalies. However, each of these disorders has its own unique characteristics and features.
- X-linked microphthalmia is a rare genetic disorder that affects the development of the eyes, leading to small or absent eyes.
- Lenz syndrome is a rare genetic disorder that affects the development of the eyes, skin, and other tissues, leading to cataracts, skin lesions, and other symptoms.
- Oculo-facio-cardio-dental (OFCD) syndrome is a rare genetic disorder that affects the development of the eyes, face, heart, and teeth, leading to cataracts, facial abnormalities, and other symptoms.
- Oculo-cerebro-renal (Lowe) syndrome is a rare genetic disorder that affects the development of the eyes, brain, and kidneys, leading to cataracts, intellectual disability, and other symptoms.
A differential diagnosis for NHS would involve ruling out these conditions based on their unique characteristics and features. This can be done through a combination of clinical evaluation, laboratory tests, and genetic analysis.
References: * [2] - Differential diagnosis includes: X-linked microphthalmia, Lenz syndrome, Oculo-facio-cardio-dental (OFCD) syndrome, and Oculo-cerebro-renal (Lowe) syndrome * [7] - Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, ...
Additional Differential Diagnoses
- oculocerebrorenal syndrome
- X-linked microphthalmia
- N syndrome
Additional Information
- relatedICD
- http://example.org/icd10/G25.82
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060599
- oboInOwl#hasDbXref
- UMLS_CUI:C0796085
- IAO_0000115
- A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000146
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1608
- owl#annotatedSource
- t340823
- core#notation
- DOID:0060599
- rdf-schema#label
- Nance-Horan syndrome
- rdf-schema#subClassOf
- t341299
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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