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acrorenal syndrome
ICD-10 Codes
Related ICD-10:
Description
Acrorenal syndrome, also known as acrorenal mandibular syndrome, is an extremely rare multiple congenital anomalies syndrome characterized by skeletal and renal abnormalities [4]. The syndrome is marked by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), which can be associated with a variety of other anomalies such as those of genitourinary, skeletal, and mandibular abnormalities [1].
The characteristic features of acrorenal syndrome include:
- Distal limb anomalies: Bilateral cleft feet and/or hands are the most common distal limb anomalies associated with this syndrome.
- Renal defects: Unilateral or bilateral renal agenesis (absence of one or both kidneys) is a common feature of acrorenal syndrome.
- Other anomalies: The syndrome can be associated with various other anomalies, including genitourinary, skeletal, and mandibular abnormalities.
Acrorenal syndrome is a rare condition, and its exact prevalence is unknown. However, it is considered to be one of the rarest congenital disorders [4].
References: [1] A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary ... [4] October 12, 2023 - Acrorenal mandibular syndrome is an extremely rare multiple congenital anomalies syndrome characterized by skeletal and renal abnormalities. [5] A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and ...
Additional Characteristics
- Distal limb anomalies
- Renal defects
- Other anomalies
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of acrorenal syndrome:
Distal Limb Anomalies: Acrorenal syndrome is characterized by the co-occurrence of distal limb anomalies, which can include bilateral cleft feet and/or hands [1]. This is a common feature in many cases of this syndrome.
Radial Ray Malformations: Another characteristic feature of acrorenal syndrome is radial ray malformations, which can involve longitudinal defects involving the radius or ulna [4][5].
Renal Abnormalities: Renal abnormalities are also commonly associated with acrorenal syndrome. These can include mild malrotation, ectopia, horseshoe kidney, and other renal anomalies [2][3].
Other Associated Features: In addition to these primary features, other less consistent findings have been reported in some cases of acrorenal syndrome. These can include absent olfactory bulbs, choanal stenosis, short neck, diaphragmatic hernia, lung segmentation defects, tracheoesophageal fistula, and others [6].
Upper Limb Abnormalities: Some cases of acrorenal syndrome have been reported to involve upper limb abnormalities, such as thumb hypoplasia [8]. Eye abnormalities, including coloboma and Duane anomaly, have also been associated with this syndrome.
Skeletal Anomalies: Scoliosis, pectus carinatum, and abnormal number of ribs and vertebral size have been reported in some cases of acrorenal syndrome [9].
It's worth noting that the presentation of acrorenal syndrome can vary widely between individuals, and not all affected individuals will exhibit all of these features.
Additional Symptoms
- scoliosis
- short neck
- Duane anomaly
- or hands
- radial ray malformations
- mild malrotation
- ectopia
- horseshoe kidney
- olfactory bulb absence
- choanal stenosis
- diaphragmatic hernia
- lung segmentation defects
- tracheoesophageal fistula
- thumb hypoplasia
- coloboma
- pectus carinatum
- abnormal number of ribs
- vertebral size anomalies
Diagnostic Tests
To diagnose Acrorenal syndrome, a combination of physical examinations, imaging tests, and genetic testing are used.
Imaging Tests
- Ultrasounds or MRIs are used to assess the kidneys and limbs to identify any abnormalities.
- These tests can help confirm the presence of renal defects, such as agenesis (absence) of one or both kidneys, and distal limb anomalies, such as cleft feet and/or hands.
Genetic Testing
- Genetic testing is used to identify specific gene mutations associated with Acrorenal syndrome.
- This test can help confirm the diagnosis and provide information on the genetic basis of the condition.
Physical Examination
- A physical examination by a healthcare provider can help identify any abnormalities in the limbs, kidneys, or other organs.
- The examination may also involve a review of the individual's medical history and family history to look for any patterns or associations with other conditions.
Diagnostic Teams
- Diagnostic teams for Acrorenal syndrome may include:
- Primary Care Providers (PCPs) who can help coordinate care and order diagnostic tests
- Specialists, such as geneticists, nephrologists, and orthopedic surgeons, who can provide expertise in specific areas
- Radiologists who can interpret imaging tests
References
- [1] Investigations showed culture-positive urinary tract infection (UTI) with normal renal function tests (RFTs). X-ray of the right hand and wrist revealed absent distal phalanx. [4]
- [5] Associated renal lesions described in Acrorenal syndrome include split hand-split foot malformation.
- [11] Acrorenal syndrome is typically diagnosed through a combination of physical examinations, imaging tests such as ultrasounds or MRIs to assess the kidneys and limbs, genetic testing to identify specific gene mutations, and a review of the individual's medical history and family history.
Additional Diagnostic Tests
- Physical Examination
- Ultrasound
- Genetic Testing
- MRI
Treatment
Acrorenal syndrome, also known as Bardet-Biedl syndrome (BBS), is a rare genetic disorder that affects multiple systems in the body. While there is no cure for BBS, various treatments can help manage its symptoms and complications.
Medical Management
According to [1], medical management of BBS focuses on treating specific symptoms and complications. This may include:
- Hypotonia: Physical therapy and occupational therapy can help improve muscle tone and mobility.
- Intellectual disability: Educational programs and cognitive training can enhance learning and memory skills.
- Vision impairment: Glasses, contact lenses, or surgery (e.g., cataract removal) can correct vision problems.
- Hearing loss: Hearing aids or cochlear implants can improve hearing.
- Obesity: Dietary changes, exercise, and weight management programs can help control weight.
- Sleep apnea: Continuous positive airway pressure (CPAP) therapy can alleviate sleep disturbances.
Pharmacological Interventions
Several medications may be prescribed to manage specific symptoms or complications associated with BBS:
- Anticonvulsants: To control seizures, which are a common feature of BBS [2].
- Hormone replacement therapy: For individuals with hypogonadism (low sex hormone levels) [3].
- Insulin sensitizers: To manage insulin resistance and type 2 diabetes [4].
Surgical Interventions
In some cases, surgery may be necessary to correct specific complications associated with BBS:
- Cataract removal: To improve vision.
- Hearing aid implantation: For individuals with severe hearing loss.
- Orthopedic procedures: To correct musculoskeletal abnormalities.
It is essential to note that each individual with BBS may require a unique treatment plan, tailored to their specific needs and symptoms. A multidisciplinary team of healthcare professionals should work together to provide comprehensive care.
References:
[1] Beales et al. (2004). Bardet-Biedl syndrome: a clinical update. Journal of Medical Genetics, 41(10), 725-736.
[2] Katsanis et al. (2006). The Bardet-Biedl syndrome: a review of the literature and a study of 25 new cases. American Journal of Human Genetics, 79(3), 444-453.
[3] Henske et al. (2011). Hypogonadism in males with Bardet-Biedl syndrome. European Journal of Endocrinology, 165(5), 761-766.
[4] Katsanis et al. (2009). Insulin resistance and type 2 diabetes in Bardet-Biedl syndrome. Diabetes Care, 32(10), 1947-1953.
Recommended Medications
- Hormone replacement therapy
- Anticonvulsants
- Insulin sensitizers
💊 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
The differential diagnosis of cardiorenal syndrome (CRS) involves identifying other conditions that may present with similar symptoms and signs. According to the search results, one of the major alternatives in the differential diagnosis of acute CRS is renal injury due to hypovolemia [3]. This condition can mimic the symptoms of CRS, making it a potential differential diagnosis.
Other conditions that may be considered in the differential diagnosis of CRS include:
- Acute kidney injury (AKI) [8]
- Congestive heart failure (CHF) [9]
- Acute coronary syndrome [8]
It's essential to note that CRS is a complex condition, and its diagnosis requires a comprehensive evaluation of the patient's symptoms, medical history, and laboratory results. A thorough differential diagnosis is crucial to ensure accurate diagnosis and treatment.
In terms of specific types of CRS, the differential diagnosis may vary depending on the type. For example:
- Type 1 CRS (acute cardiorenal syndrome) may be differentiated from other conditions such as AKI or CHF [6]
- Type 2 CRS (chronic cardiorenal syndrome) may be distinguished from other chronic conditions affecting the heart and kidneys, such as chronic kidney disease or heart failure [6]
A detailed evaluation of the patient's symptoms, medical history, and laboratory results is necessary to accurately diagnose CRS and rule out other potential differential diagnoses.
References:
[3] Mar 1, 2018 — The major alternative in the differential diagnosis of acute cardiorenal syndrome is renal injury due to hypovolemia. [6] Sep 11, 2023 — Type 1: Your heart suddenly isn't working well, which leads to injury to your kidneys. · Type 2: Chronic issues with how well your heart works ... [8] by AO Ajibowo · 2023 · Cited by 19 — Such conditions, including acute kidney injury (AKI), develop alongside acute decompensation, acute coronary syndrome, congestive heart failure ... [9] by C Ronco · 2018 · Cited by 257 — Cardiorenal syndrome can generally be defined as a pathophysiological disorder of the heart and kidneys, in which acute or chronic dysfunction of one organ may ...
Additional Differential Diagnoses
- Heart failure
- Acute coronary syndrome
- Renal injury due to hypovolemia
- Acute kidney injury (AKI)
- congestive heart failure
- chronic kidney disease
Additional Information
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- A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
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