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Hennekam syndrome
ICD-10 Codes
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Description
Hennekam Syndrome: A Rare Lymphatic Disorder
Hennekam syndrome, also known as Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1), is a rare inherited disorder that affects the lymphatic system. This condition is characterized by malformation of the lymphatic system, which is part of both the circulatory and immune systems.
Key Features:
- Facial Characteristics: Individuals with Hennekam syndrome often have distinctive facial features, including a flat face, broad and depressed nasal bridge, hypertelorism (increased distance between the eyes), epicanthi (folds of skin at the inner corner of the eye), small mouth, and low-set ears with a narrow meatus.
- Lymphatic System Abnormalities: The condition is marked by malformation of the lymphatic system, leading to intestinal lymphangiectasia (enlargement of lymphatic vessels in the intestine) and peripheral lymphedema (swelling due to fluid accumulation in the limbs).
- Intellectual Deficit and Developmental Delay: Many individuals with Hennekam syndrome experience intellectual deficit and developmental delay, which can range from mild to moderate.
- Autosomal Recessive Inheritance: The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
References:
- [1] Hennekam syndrome is characterized by malformation of the lymphatic system, which is part of both the circulatory system and immune system. [2]
- Facial characteristics are a flat face, a broad and depressed nasal bridge, hypertelorism, epicanthi, a small mouth, and low-set ears with a narrow meatus. [3]
- Hennekam syndrome is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and developmental delay. [5]
Additional Characteristics
- flat face
- hypertelorism (increased distance between the eyes)
- malformation of the lymphatic system
- intestinal lymphangiectasia (enlargement of lymphatic vessels in the intestine)
- peripheral lymphedema (swelling due to fluid accumulation in the limbs)
- intellectual deficit and developmental delay
- broad and depressed nasal bridge
- epicanthi (folds of skin at the inner corner of the eye)
- small mouth
- low-set ears with a narrow meatus
Signs and Symptoms
Characteristics of Hennekam Syndrome
Hennekam syndrome, also known as Hennekam lymphangiectasia syndrome, is a rare genetic disorder characterized by several distinct signs and symptoms.
- Lymphatic Vessels Abnormalities: One of the primary features of Hennekam syndrome is the presence of abnormally expanded lymphatic vessels (lymphangiectasia), particularly in the intestinal tract [1][4].
- Unique Facial Characteristics: Individuals with Hennekam syndrome often have distinctive facial features, including a flat face, broad and depressed nasal bridge, hypertelorism, epicanthi, small mouth, and low-set ears with a narrow meatus [3].
- Intellectual Disability and Growth Delay: Many people with Hennekam syndrome experience intellectual disability and growth delay [2][5].
- Respiratory Problems and Camptodactyly: Respiratory problems and camptodactyly (permanently bent fingers and toes) are also common features of the condition [2].
- Lymphedema and Swelling: The syndrome is characterized by lymphatic vessel abnormalities, leading to swelling due to fluid buildup in various parts of the body [6][7].
- Additional Variable Manifestations: Additional symptoms may include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy [7].
References
[1] The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels that are abnormally expanded (lymphangiectasia), particularly in the intestinal tract.
[2] Other common features include intellectual disability, growth delay, respiratory problems, camptodactyly (permanently bent fingers and toes) and cutaneous abnormalities.
[3] Facial characteristics are a flat face, a broad and depressed nasal bridge, hypertelorism, epicanthi, a small mouth, and low-set ears with a narrow meatus.
[4] The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels that are abnormally expanded (lymphangiectasia), particularly in the intestinal tract.
[5] Hennekam syndrome is a rare autosomal recessive disorder, characterized by facial anomalies, intestinal lymphangiectasia, peripheral lymphedema, and physical abnormalities.
[6] Symptoms include lymphatic vessels that are abnormally expanded, swelling due to fluid buildup, and unique facial characteristics like a flattened face, puffy eyelids, and low-set ears.
[7] Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy.
Additional Symptoms
- Feeding problems
- Epilepsy
- Lymphatic Vessels Abnormalities
- Unique Facial Characteristics
- Intellectual Disability and Growth Delay
- Respiratory Problems and Camptodactyly
- Lymphedema and Swelling
- Vision and hearing impairments
- Recurrent upper airway infections
Diagnostic Tests
Diagnostic Tests for Hennekam Syndrome
Hennekam syndrome, also known as Hennekam lymphangiectasia-lymphedema syndrome or generalized lymphatic dysplasia, is a rare autosomal recessive disorder. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions.
- Genetic Testing: Genetic testing is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment, and access to clinical trials [2][6]. The genetic test can identify mutations in associated genes, such as CCBE1 or FAT4 [11].
- Imaging Studies: Imaging studies like ultrasound, magnetic resonance imaging (MRI), or computed tomography (CT) scans may be used to evaluate the extent of lymphatic malformation and assess for any complications [8][9].
- Clinical Examination: A thorough clinical examination is necessary to identify signs and symptoms associated with Hennekam syndrome, such as facial anomalies, intestinal lymphangiectasia, and primary lymphedema [3][5].
- Protein Loss Evaluation: Evaluating protein loss through clinical and laboratory tests, including proteinemia, can help confirm the diagnosis [7].
It's essential to consult a clinical genetic specialist for a proper evaluation and diagnosis. They may suggest specific genetic testing or other types of tests to help reach a diagnosis [12].
Additional Diagnostic Tests
- Imaging Studies
- Genetic Testing
- Clinical Examination
- Protein Loss Evaluation
Treatment
Treatment Options for Hennekam Syndrome
Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system, requires a comprehensive treatment approach to manage its symptoms and complications.
- Dietary Management: A high protein, low fat diet with medium chain triglycerides supplementation is recommended to help control hypoproteinemia (low protein levels in the blood) [2][5].
- Supportive Therapy: Albumin infusion may be necessary to support the body's protein needs and prevent further complications [2].
- No Maintenance Medications: Unlike some other conditions, no maintenance medications are indicated for primary intestinal lymphangiectasia (PIL), except for the use of octreotide in certain cases [7].
Important Considerations
It is essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual needs and circumstances.
Additionally, prophylactic anti-seizure medications may be considered for at-risk infants, although this approach is still controversial among pediatric neurologists [6]. Muscle relaxants should be avoided until the airway is secured, and certain drugs that increase intraocular pressure or are contraindicated in glaucoma cases should also be avoided [9].
Current Research
A Phase 2 study is underway to evaluate the safety and efficacy of sildenafil taken orally to improve or resolve lymphatic malformations in children. This research may provide further insights into potential treatment options for Hennekam syndrome [10].
Recommended Medications
- Albumin infusion
- Sildenafil (oral)
- octreotide
- Octreotide
💊 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
Differential Diagnosis of Hennekam Syndrome
Hennekam syndrome, also known as Hennekam lymphangiectasia-lymphedema syndrome 1, is a rare autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs. When diagnosing this condition, it's essential to consider other rare syndromes associated with congenital lymphedema that may present similar symptoms.
Other Conditions to Consider:
- Noonan syndrome: A genetic disorder that affects the development of multiple body systems and can cause heart problems, short stature, and facial abnormalities.
- Turner-like syndrome: A condition where one of the X chromosomes is missing or partially deleted, leading to physical and developmental issues.
- Milroy syndrome: A rare autosomal dominant disorder characterized by congenital lymphedema, which can be unilateral or bilateral.
- Cholestasis-lymphedema syndrome: A rare genetic disorder that affects the liver and lymphatic system, causing cholestasis (bile flow obstruction) and lymphedema.
Key Points to Consider:
- Intestinal lymphangiectasia is a crucial aspect of Hennekam syndrome, and its presence should prompt consideration of this condition in the differential diagnosis.
- Facial anomalies, mental retardation, and lymphedema are common symptoms of Hennekam syndrome, which can help differentiate it from other conditions.
References:
- [6] Differential diagnosis of Hennekam syndrome include other rare syndromes associated with congenital lymphedema as: Noonan syndrome or Turner-like syndrome.
- [11] Differential diagnosis includes congenital lymphedema syndromes of, Turner’s syndrome, Noonan syndrome and Milroy ...
- [12] The differential diagnosis includes other entities associated with congenital lymphedema such as Noonan syndrome, Milroy syndrome and cholestasis-lymphedema syndrome, and Van Maldergem syndrome.
Additional Differential Diagnoses
Additional Information
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- IAO_0000115
- A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
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