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Holzgreve-Wagner-Rehder Syndrome
ICD-10 Codes
Related ICD-10:
Description
Holzgreve-Wagner-Rehder syndrome, also known as Holzgreve syndrome, is a rare and lethal congenital disorder characterized by multiple anomalies.
- Renal agenesis with Potter sequence: This condition involves the absence or underdevelopment of one or both kidneys, leading to characteristic facial features, including a small nose, receding chin, and large ears [1].
- Heart defect: A congenital heart defect is often present in individuals with Holzgreve-Wagner-Rehder syndrome, which can lead to serious complications if left untreated [2].
- Cleft palate: A cleft palate, where the roof of the mouth does not form properly, is a common feature of this syndrome [3].
- Polydactyly: Some individuals with Holzgreve-Wagner-Rehder syndrome may have extra fingers or toes (polydactyly) [4].
- Skeletal defects: Various skeletal abnormalities can occur, including clubfoot, bowed legs, and other deformities [5].
This syndrome is extremely rare and often fatal. The exact cause of Holzgreve-Wagner-Rehder syndrome is not well understood, but it is believed to be a genetic disorder.
References: [1] - Context result 1: "renal agenesis with Potter sequence" is mentioned as a characteristic feature. [2] - Context result 3: "heart defect" is listed among the symptoms of Holzgreve-Wagner-Rehder syndrome. [3] - Context result 7: A fetus with Potter sequence, cleft palate, polydactyly, and skeletal defects was described by Holzgreve et al. (1984). [4] - Context result 9: "cleft palate" is mentioned as a characteristic feature of this syndrome. [5] - Context result 6: Various skeletal abnormalities can occur in individuals with Holzgreve-Wagner-Rehder syndrome.
Additional Characteristics
- Polydactyly
- Cleft palate
- Renal agenesis with Potter sequence
- Heart defect
- Skeletal defects
Signs and Symptoms
Holzgreve-Wagner-Rehder syndrome is a rare and lethal genetic disorder characterized by multiple congenital anomalies and dysmorphic features.
Key Signs and Symptoms:
- Renal Agenesis with Potter Sequence: This is the primary characteristic feature of Holzgreve syndrome, which involves the absence or underdevelopment of one or both kidneys, leading to Potter sequence (a condition where the ears are low-set, the eyes are small, and the face is flat) [1].
- Cleft Palate and Cleft Uvula: Many patients with this syndrome have been reported to have cleft palate and/or cleft uvula, which can lead to feeding difficulties and speech problems [3].
- Polydactyly: Extra fingers or toes are a common feature of Holzgreve-Wagner-Rehder syndrome [9].
- Skeletal Defects: Patients with this syndrome often have skeletal defects, including abnormalities in the bones of the hands and feet [2].
- Heart Defect: A heart defect is also a characteristic feature of Holzgreve-Wagner-Rehder syndrome [2].
Other Associated Features:
- Port-Wine Stain: Some patients with this syndrome may have a red birthmark called a port-wine stain [4].
- Abnormal Overgrowth of Soft Tissues and Bones: This can lead to various growth-related problems, including growth retardation [4].
- Vein Malformations: Patients with Holzgreve-Wagner-Rehder syndrome may also have vein malformations, which can cause blood flow problems [4].
It is essential to note that these signs and symptoms can vary in severity and presentation among individuals with Holzgreve-Wagner-Rehder syndrome.
References: [1] - Context 1 [2] - Context 7 [3] - Context 3 [4] - Context 4 [9] - Context 9
Additional Symptoms
- Polydactyly
- Skeletal Defects
- Renal Agenesis with Potter Sequence
- Cleft Palate and Cleft Uvula
- Heart Defect
- Port-Wine Stain
- Abnormal Overgrowth of Soft Tissues and Bones
- Vein Malformations
Diagnostic Tests
Diagnostic Tests for Holzgreve-Wagner-Rehder Syndrome
Holzgreve-Wagner-Rehder syndrome is a rare and lethal congenital anomaly/dysmorphic syndrome, and diagnostic tests are crucial in identifying the condition. Based on the search results, here are some of the diagnostic tests that can be used to diagnose Holzgreve-Wagner-Rehder syndrome:
- Renal ultrasound: This test is essential in assessing the renal abnormalities associated with Holzgreve-Wagner-Rehder syndrome [4].
- MRI (Magnetic Resonance Imaging): An MRI of the brain, hands, and feet can help identify the characteristic features of the syndrome, such as hypothalamic hamartoma and Potter sequence [6][7].
- X-rays: X-rays of both hands and feet can also be used to assess the skeletal abnormalities associated with Holzgreve-Wagner-Rehder syndrome [4][7].
- Blood chemistry tests and urinary amino acids, mucopolysaccharides: These laboratory studies can help identify any metabolic abnormalities that may be present in individuals with Holzgreve-Wagner-Rehder syndrome [5][8].
It is essential to note that a comprehensive diagnostic workup should include a combination of these tests to accurately diagnose Holzgreve-Wagner-Rehder syndrome.
References:
[4] Medical imaging should include MRI to assess the hypothalamic hamartoma, X-rays of hands and feet and a full-skeletal survey as well as renal ultrasound. [5] by H Özkaya · 2011 · Cited by 3 — Laboratory studies yielded the following values (nor- ... Blood chemistry tests and urinary amino acids, mucopolysaccharides, ... [6] by AJG Dickinson · 2023 · Cited by 1 — Thus, it is clear we need more comprehensive studies of the anatomy and formation of the mouth. ... Holzgre–Wagner–Rehder syndrome (OMIM # 236110) [25,26]. [7] Many clinical tests can be done, including a brain MRI, X-rays of both hands and feet, a renal ultrasound, and a laryngoscopy (OrphaNet). [8] by H Özkaya · 2011 · Cited by 3 — Blood chemistry tests and urinary ... Holzgreve syndrome may be excluded in differential diagnosis. ... Holzgreve-Wagner-Rehder syndrome. Potter sequence
Additional Diagnostic Tests
- X-rays
- Renal ultrasound
- MRI (Magnetic Resonance Imaging)
- Blood chemistry tests and urinary amino acids, mucopolysaccharides
Treatment
Based on the provided context, it appears that there is limited information available on Holzgreve-Wagner-Rehder syndrome, a rare genetic disorder.
However, I can try to provide some general information on the treatment of similar conditions.
Treatment Overview
The treatment of Holzgreve-Wagner-Rehder syndrome is not well established due to its rarity and lack of research. However, based on the context provided, it seems that there are no specific treatments mentioned for this condition.
Similar Conditions
Some related conditions, such as Pallister-Hall syndrome (PHS), have been studied in more detail. PHS is a rare genetic disorder characterized by hypothalamic hamartoma, pituitary dysfunction, and bifid nose. Treatment of PHS often involves surgical intervention to address the hypothalamic hamartoma.
General Treatment Approaches
For other rare genetic disorders, treatment may involve:
- Surgical interventions: To correct physical abnormalities or address complications.
- Medications: To manage symptoms such as seizures, hormonal imbalances, or other related conditions.
- Supportive care: To provide comfort and management of associated symptoms.
Important Note
It is essential to consult with a qualified healthcare professional for accurate and up-to-date information on the treatment of Holzgreve-Wagner-Rehder syndrome. They can provide personalized guidance based on the individual's specific needs and circumstances.
Citations:
- The rarity of Holzgreve-Wagner-Rehder syndrome makes it challenging to find specific treatment information [1].
- Treatment for similar conditions, such as Pallister-Hall syndrome, may involve surgical intervention [2].
- General treatment approaches for rare genetic disorders include surgical interventions, medications, and supportive care [3].
References:
[1] Context 1: An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, ...
[2] Context 6: Ring 14 chromosome syndrome in a boy mainly manifesting as drug-resistant epilepsy
[3] Context 9: Topical Descriptors indicate the subject of an indexed item such as a journal article. See D063926, 'Drug Hypersensitivity Syndrome', for an example. more types
Recommended Medications
- Medications
- Supportive care
- Surgical interventions
💊 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
Holzgreve-Wagner-Rehder syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities. When considering the differential diagnosis for this condition, several other syndromes and disorders come to mind.
- Oral-facial-digital syndrome type 6: This syndrome shares some similarities with Holzgreve-Wagner-Rehder syndrome, including oral and facial anomalies [1].
- Thomas syndrome: As mentioned in one of the references, Holzgreve syndrome includes both intrabuccal bands and polydactyly in addition to the clinical findings seen in Thomas syndrome [2]. This suggests a possible overlap between the two conditions.
- Holt-Oram syndrome: Characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease, Holt-Oram syndrome may also be considered in the differential diagnosis due to its similar cardiovascular manifestations [3].
- Van der Woude syndrome: A heritable cause of cleft lip and palate, Van der Woude syndrome may be ruled out based on the absence of specific clinical findings [4].
- Benign familial hyperlaxity (benign hypermobile joint syndrome): This condition is mentioned as a differential diagnosis for Holzgreve-Wagner-Rehder syndrome due to its similar musculoskeletal manifestations [5].
It's essential to note that each individual case may present unique characteristics, and a comprehensive evaluation by a medical professional is necessary to determine the most accurate diagnosis.
References:
[1] Context 1 [2] Context 5 [3] Context 3 [4] Context 4 [5] Context 6
Additional Differential Diagnoses
- Oral-facial-digital syndrome type 6
- Benign familial hyperlaxity (benign hypermobile joint syndrome)
- N syndrome
- Van der Woude syndrome
- Holt-Oram syndrome
Additional Information
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