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Bamforth-Lazarus syndrome
ICD-10 Codes
Related ICD-10:
Description
Bamforth-Lazarus syndrome, also known as Bamforth Syndrome or Congenital Hypothyroidism Syndrome, is a rare congenital condition characterized by several distinct features.
Key Features:
- Congenital hypothyroidism: This is the primary characteristic of the syndrome, where the thyroid gland does not develop properly, leading to an underactive thyroid (hypothyroidism).
- Cleft palate: A cleft palate, which is a birth defect where the roof of the mouth doesn't form correctly, is often associated with Bamforth-Lazarus syndrome.
- Spiky hair: The condition is also known for causing spiky or brittle hair in affected individuals.
- Choanal atresia: In some cases, choanal atresia (a blockage of the nasal passages) may be present.
Additional Information:
Bamforth-Lazarus syndrome is a rare autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
The exact cause of Bamforth-Lazarus syndrome is not fully understood, but it is believed to be related to genetic mutations affecting thyroid development and function.
References:
- [1] Congenital genetic disorder combining cleft palate, choanal atresia, hypothyroidism, and spiky hair. (Source: Search Result 5)
- [2-4] Bamforth-Lazarus syndrome is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair. (Sources: Search Results 3, 4, and 7)
- [5-6] Congenital genetic disorder combining cleft palate, choanal atresia, hypothyroidism, and spiky hair. (Sources: Search Results 5 and 6)
Additional Characteristics
- Choanal atresia
- Cleft palate
- Congenital hypothyroidism
- Spiky hair
Signs and Symptoms
Bamforth-Lazarus syndrome, also known as BAMLAZ, is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia. The signs and symptoms of this condition include:
- Congenital hypothyroidism: This is the primary characteristic of Bamforth-Lazarus syndrome, where the thyroid gland does not develop properly during fetal development.
- Cleft palate: A cleft palate is a common feature of this syndrome, which can affect speech and eating.
- Choanal atresia: This refers to a blockage or narrowing of the nasal passages, which can cause breathing difficulties.
- Bifid epiglottis: The epiglottis is a flap-like structure that separates the trachea from the esophagus. In Bamforth-Lazarus syndrome, it may be split or bifurcated.
- Micrognathia: This refers to a small lower jawbone, which can affect facial appearance and dental development.
- Abnormal hair quantity: Some individuals with Bamforth-Lazarus syndrome may have sparse or excessive hair growth.
- Intellectual disability: In some cases, individuals with this syndrome may experience intellectual disability or developmental delays.
These signs and symptoms are based on the phenotypic description of Bamforth-Lazarus syndrome, which is an analysis of the biomedical literature using the terms of the Human Phenotype Ontology (HPO) [6].
References: [1] Congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia [5] * Cleft palate and choanal atresia are common features [3][4] * Bifid epiglottis, micrognathia, abnormal hair quantity, and intellectual disability may also occur [7][8]
Additional Symptoms
- Micrognathia
- Abnormal hair quantity
- Choanal atresia
- Cleft palate
- Intellectual disability
- Congenital hypothyroidism
- Bifid epiglottis
Diagnostic Tests
Diagnostic Tests for Bamforth-Lazarus Syndrome
Bamforth-Lazarus syndrome, a rare autosomal recessive disorder, can be diagnosed through various clinical tests and examinations.
- Molecular Genetics Tests: 24 tests are available in the database to diagnose this condition. These include:
- Deletion/duplication analysis (13)
- Sequence analysis of the entire coding region (22)
- Targeted variant analysis (5)
- Clinical Tests: Results of thyroid ultrasonography and computed tomography (CT) scan examination contribute to the diagnosis of the syndrome.
- Blood Tests: Measuring TSH levels can help diagnose congenital hypothyroidism, a key feature of Bamforth-Lazarus syndrome.
These diagnostic tests can help identify the presence of cleft palate, choanal atresia, hypothyroidism, and spiky hair, which are characteristic features of this rare genetic disorder.
Additional Diagnostic Tests
- Blood Tests
- Clinical Tests
- Molecular Genetics Tests
Treatment
Standard Treatment for Bamforth-Lazarus Syndrome
Bamforth-Lazarus syndrome, a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid dysgenesis, requires prompt and lifelong treatment. The standard treatment for this condition is thyroid hormone replacement therapy, which should be initiated as soon as possible.
Benefits of Early Treatment
Early initiation of thyroid hormone replacement therapy has been shown to allow for normal physical growth, pubertal development, and overall well-being in individuals with Bamforth-Lazarus syndrome. This treatment approach helps to mitigate the effects of congenital hypothyroidism and promotes a more favorable outcome.
Lifelong Treatment Requirement
It is essential to note that thyroid hormone replacement therapy is a lifelong requirement for individuals with Bamforth-Lazarus syndrome. Regular monitoring and adjustments to the dosage may be necessary to ensure optimal treatment outcomes.
References:
- [1] Thyroid hormone replacement therapy is the standard treatment for those with Bamforth-Lazarus Syndrome and should be started as soon as possible.
- [3] These patients receive thyroid hormone replacement therapy, which when started early has been shown to allow for normal physical growth, pubertal development, ...
- [9] Thyroid hormone replacement therapy is the standard treatment for those with Bamforth-Lazarus Syndrome and should be started as soon as possible. The dosage ...
- [7] Nov 25, 2022 — The standard treatment consists of thyroid hormone replacement therapy and must start as soon as possible. The treatment is lifelong, and ...
Recommended Medications
- thyroid hormone replacement therapy
💊 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
Bamforth-Lazarus syndrome is a rare congenital disorder characterized by thyroid dysgenesis
Additional Differential Diagnoses
- Thyroid dysgenesis
Additional Information
- relatedICD
- http://example.org/icd10/R71.8
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050655
- oboInOwl#hasDbXref
- MIM:241850
- IAO_0000115
- A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.
- oboInOwl#hasExactSynonym
- HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_692
- owl#annotatedSource
- t331987
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050655
- rdf-schema#label
- Bamforth-Lazarus syndrome
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_1459
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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