Nail-Patella Syndrome
Nails
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. (1/40)
The nail patella syndrome (NPS1) is an autosomal dominant disorder characterised by dysplasia of the finger nails and skeletal abnormalities. NPS1 has been mapped to 9q34, to a 1 cM interval between D9S315 and the adenylate kinase gene (AK1). We have mapped the breakpoints within the candidate NPS1 region in two unrelated patients with balanced translocations. One patient [46,XY,t(1;9)(q32.1;q34)] was detected during a systematic survey of old cytogenetic files in Denmark and southern Sweden. The other patient [46,XY,t(9;17)(q34.1;q25)] was reported previously. D9S315 and AK1 were used to isolate YACs, from which endclones were used to isolate PACs. Two overlapping PAC clones span the 9q34 breakpoints in both patients, suggesting that NPS1 is caused by haploinsufficiency due to truncation or otherwise inactivation of a gene at or in the vicinity of the breakpoints. (+info)Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. (2/40)
Patella aplasia-hypoplasia (PTLAH) is a rare genetic defect characterized by congenital absence or marked reduction of the patella. PTLAH can occur either as an isolated defect or in association with other malformations, and it characteristically occurs in the nail-patella syndrome and in some chromosome imbalances. We report the first evidence of linkage for isolated PTLAH in an extended Venezuelan family. After exclusion of the candidate chromosome regions where disorders associated with PTLAH have been mapped, a genomewide scan was performed that supported mapping of the disease locus within a region of 12 cM on chromosome 17q22. Two marker loci (D17S787 and D17S1604) typed from this region gave maximum LOD scores >3. Accordingly, multipoint analysis gave a maximum LOD score of 3.39, with a most likely location for the disease gene between D17S787 and D17S1604. Sequencing of the noggin gene, a candidate mapping between these markers, failed to reveal any mutation in affected subjects. (+info)LMX1B transactivation and expression in nail-patella syndrome. (3/40)
Lmx1b, a member of the LIM homeodomain protein family, is essential for the specification of dorsal limb fates at the zeugopodal and autopodal level in vertebrates. We and others have shown that a skeletal dysplasia, nail-patella syndrome (NPS), results from mutations in LMX1B. While it is a unique mesenchymal determinant of dorsal limb patterning during vertebrate development, the mechanism by which LMX1B mutations generate the NPS phenotype has not been addressed at a transcriptional level or correlated with its spatial pattern of gene expression. In this study, in situ hybridizations of Lmx1b on murine limb sections reveal strong expression in dorsal mesenchymal tissues (precursors of muscle, tendons, joints and patella) and, interestingly, also in anterior structures of the limb, explaining the anterior to posterior gradient of joint and nail dysplasia observed in NPS patients. Transfection studies showed that both the LIM domain-interacting protein, LDB1, and the helix-loop-helix protein, E47/shPan1, can regulate LMX1B action. While co--transfections of E47/shPan1 with LMX1B result in a synergistic effect on reporter activity, LDB1 down-regulated LMX1B-mediated transactivation irrespective of E47/shPan1. Mutant LMX1B proteins containing human mutations affecting each of the helices or the N-terminal arm of the homeodomain abolished transactivation, while LIM B and truncation mutations retained residual activity. These mutations fail to act in a dominant-negative manner on wild-type LMX1B in mixing studies, thereby supporting haploinsufficiency as the mechanism underlying NPS pathogenesis. (+info)Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. (4/40)
Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B. In a large NPS family a 17 bp intronic deletion encompassing a consensus branchpoint sequence was observed to segregate with the NPS phenotype. RNA analysis demonstrated that deletion of the branchpoint sequence resulted in skipping of the downstream exon. A mechanism to explain this phenomenon is presented. (+info)Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families. (5/40)
Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. A cohort of eight Dutch NPS families were screened for mutations in the LMX1B gene; seven different mutations, including one novel variant, were identified. Three of the mutations are very likely to result in truncated LMX1B proteins, three are predicted to influence sequence-specific DNA binding, and one is presumed to prevent the formation of a stable protein by abolishing the Zn(II) binding site of the protein. Although there was a remarkable high incidence of renal disease in one of the families, the nephropathy was not seen in all affected family members and the severity of renal impairment varied significantly among the patients. This indicates that the incidence and severity of nephropathy within this family cannot be attributed to the LMX1B genotype. In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found. (+info)Age trends in human chiasma frequencies and recombination fractions. II. Method for analyzing recombination fractions and applications to the ABO:nail-patella linkage. (6/40)
A new method is presented for studying the relationship between human recombination fractions and parental age at the time of conception. Assuming the sex specific recombination fraction to be a linear function of age, a feasible computer algorithm is described whereby the likelihood of multigenerational families can be calculated. Using this method and the likelihood ratio test, it is found that for the ABO:nail-patella linkage age (P= .17)is more significant than sex (p= .23) in its effect on the recombination fraction. The age effect, if it is real, appears to be limited to males: the paternal recombination fraction decreases by .0062(+/- .0036) per year. (+info)Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. (7/40)
LMX1B encodes a LIM-homeodomain transcription factor. Mutations in LMX1B cause nail-patella syndrome (NPS), an autosomal dominant disease with skeletal abnormalities, nail hypoplasia, and nephropathy. Expression of glomerular basement membrane (GBM) collagens is reduced in Lmx1b(-/-) mice, suggesting one basis for NPS nephropathy. Here, we show that Lmx1b(-/-) podocytes have reduced numbers of foot processes, are dysplastic, and lack typical slit diaphragms, indicating an arrest in development. Using antibodies to podocyte proteins important for podocyte function, we found that Lmx1b(-/-) podocytes express near-normal levels of nephrin, synaptopodin, ZO-1, alpha3 integrin, and GBM laminins. However, mRNA and protein levels for CD2AP and podocin were greatly reduced, suggesting a cooperative role for these molecules in foot process and slit diaphragm formation. We identified several LMX1B binding sites in the putative regulatory regions of both CD2AP and NPHS2 (podocin) and demonstrated that LMX1B binds to these sequences in vitro and can activate transcription through them in cotransfection assays. Thus, LMX1B regulates the expression of multiple podocyte genes critical for podocyte differentiation and function. Our results indicate that reduced levels of proteins associated with foot processes and the glomerular slit diaphragm likely contribute, along with reduced levels of GBM collagens, to the nephropathy associated with NPS. (+info)The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. (8/40)
Patients with nail-patella syndrome often suffer from a nephropathy, which ultimately results in chronic renal failure. The finding that this disease is caused by mutations in the transcription factor LMX1B, which in the kidney is expressed exclusively in podocytes, offers the opportunity for a better understanding of the renal pathogenesis. In our analysis of the nephropathy in nail-patella syndrome, we have made use of the Lmx1b knockout mouse. Transmission electron micrographs showed that glomerular development in general and the differentiation of podocytes in particular were severely impaired. The glomerular capillary network was poorly elaborated, fenestrae in the endothelial cells were largely missing, and the glomerular basement membrane was split. In addition podocytes retained a cuboidal shape and did not form foot processes and slit diaphragms. Expression of the alpha4 chain of collagen IV and of podocin was also severely reduced. Using gel shift assays, we demonstrated that LMX1B bound to two AT-rich sequences in the promoter region of NPHS2, the gene encoding podocin. Our results demonstrate that Lmx1b regulates important steps in glomerular development and establish a link between three hereditary kidney diseases: nail-patella syndrome (Lmx1b), steroid-resistant nephrotic syndrome (podocin), and Alport syndrome (collagen IV alpha4). (+info)Nail-Patella Syndrome (NPS) is a genetic disorder that affects the development of certain bones and organs. It's also known as Fong's syndrome, Hereditary Onycho-Osteodysplasia, or Turner-Kieser syndrome. The name comes from its most prominent features: abnormalities of the nails and kneecaps (patellae).
The main characteristics of NPS include:
1. Nail changes: These are often the first sign of the condition. The nails may be thin, underdeveloped, or absent, especially on the thumbs and index fingers. They can also be ridged, pitted, or discolored.
2. Patella (kneecap) abnormalities: About 70% of people with NPS have kneecaps that are small, irregularly shaped, or displaced from their normal position. This can cause knee pain and instability.
3. Elbow abnormalities: People with NPS may have elbow deformities, such as dislocated radial heads (one of the bones in the forearm).
4. Illic crest (pelvic bone) abnormalities: Some people with NPS have iliac horns, which are bony growths on the pelvis that don't cause any symptoms but can be detected through imaging tests.
5. Glaucoma: Around 10% of individuals with NPS develop glaucoma, a condition characterized by increased pressure within the eye, leading to optic nerve damage and potential vision loss if left untreated.
6. Kidney issues: Up to 40% of people with NPS experience kidney problems, such as proteinuria (excessive protein in urine) or kidney failure.
Nail-Patella Syndrome is caused by mutations in the LMX1B gene and is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is needed to cause the disorder. However, about 20% to 30% of cases result from new mutations and have no family history of the condition.
The patella, also known as the kneecap, is a sesamoid bone located at the front of the knee joint. It is embedded in the tendon of the quadriceps muscle and serves to protect the knee joint and increase the leverage of the extensor mechanism, allowing for greater extension force of the lower leg. The patella moves within a groove on the femur called the trochlea during flexion and extension of the knee.
In the context of medical terminology, "nails" primarily refer to the keratinous plates that are found at the tips of fingers and toes. These specialized structures are part of the outermost layer of the skin (epidermis) and are formed by a type of cells called keratinocytes. The nails serve to protect the delicate underlying tissues from trauma, and they also aid in tasks such as picking up small objects or scratching itches.
The medical term for fingernails and toenails is "unguis," which comes from Latin. Each nail consists of several parts:
1. Nail plate: The visible part of the nail that is hard and flat, made up of keratin.
2. Nail bed: The skin beneath the nail plate to which the nail plate is attached; it supplies blood to the nail.
3. Matrix: The area where new cells are produced for the growth of the nail plate; located under the cuticle and extends slightly onto the finger or toe.
4. Lunula: The crescent-shaped white area at the base of the nail plate, which is the visible portion of the matrix.
5. Cuticle: The thin layer of skin that overlaps the nail plate and protects the underlying tissue from infection.
6. Eponychium: The fold of skin that surrounds and covers the nail plate; also known as the "proximal nail fold."
7. Hyponychium: The area of skin between the free edge of the nail plate and the fingertip or toe tip.
8. Perionychiun: The skin surrounding the nail on all sides.
Understanding the anatomy and medical aspects of nails is essential for healthcare professionals, as various conditions can affect nail health, such as fungal infections, ingrown nails, or tumors.
Nail diseases, also known as onychopathies, refer to a group of medical conditions that affect the nail unit, which includes the nail plate, nail bed, lunula, and surrounding skin (nail fold). These diseases can be caused by various factors such as fungal infections, bacterial infections, viral infections, systemic diseases, trauma, and neoplasms.
Some common examples of nail diseases include:
1. Onychomycosis - a fungal infection that affects the nail plate and bed, causing discoloration, thickening, and crumbling of the nail.
2. Paronychia - an infection or inflammation of the nail fold, caused by bacteria or fungi, resulting in redness, swelling, and pain.
3. Ingrown toenails - a condition where the nail plate grows into the surrounding skin, causing pain, redness, and infection.
4. Onycholysis - a separation of the nail plate from the nail bed, often caused by trauma or underlying medical conditions.
5. Psoriasis - a systemic disease that can affect the nails, causing pitting, ridging, discoloration, and onycholysis.
6. Lichen planus - an inflammatory condition that can affect the skin and nails, causing nail thinning, ridging, and loss.
7. Melanonychia - a darkening of the nail plate due to pigmentation, which can be benign or malignant.
8. Brittle nails - a condition characterized by weak, thin, and fragile nails that easily break or split.
9. Subungual hematoma - a collection of blood under the nail plate, often caused by trauma, resulting in discoloration and pain.
10. Tumors - abnormal growths that can develop in or around the nail unit, ranging from benign to malignant.
Accurate diagnosis and treatment of nail diseases require a thorough examination and sometimes laboratory tests, such as fungal cultures or skin biopsies. Treatment options vary depending on the underlying cause and may include topical or oral medications, surgical intervention, or lifestyle modifications.
Nail-patella syndrome
LDB1
LMX1B
Dysplastic nail
Scoliosis
Collagen, type V, alpha 2
Collagen, type V, alpha 1
George McMahon (activist)
Loose anagen syndrome
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Christopher Largen
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Proteinuria
NPS
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Osteo-onychodysplasia3
- Nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD), is an uncommon genetically determined disease that involves organs of both ectodermal and mesodermal origin. (medscape.com)
- No treatment is available for the cutaneous findings of nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD). (medscape.com)
- Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. (bmj.com)
Hypoplasia4
- There is bilateral hypoplasia or absence of the patella, subluxation of the radial head at the elbows, and bilateral accessory iliac horns. (msdmanuals.com)
- OMIM 161200) is an autosomal dominant condition characterized by the classical clinical tetrad of nail dysplasia, patellar aplasia-hypoplasia, elbow arthrodysplasia, and iliac horns. (medscape.com)
- Mutations in LMX1B cause nail-patella syndrome (NPS), an autosomal dominant disease with skeletal abnormalities, nail hypoplasia, and nephropathy. (nih.gov)
- A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. (bvsalud.org)
Renal disease5
- Periodic and prolonged follow up is recommended in all nail-patella syndrome (NPS) patients, with annual monitoring for hypertension and renal disease and screening for ocular hypertension and glaucoma. (medscape.com)
- Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. (amrita.edu)
- Hypertension and renal disease are treated as in the general population, with recognition that ACE inhibitors have been shown to slow progression of proteinuria in nail-patella syndrome. (medscape.com)
- Many cutaneous disorders experienced by patients undergoing dialysis have little to do with the uremic syndrome and are related to the same underlying pathologic process that caused the renal disease. (medscape.com)
- Vasculitis and renal disease in nail-patella syndrome: case report and literature review. (bmj.com)
Glaucoma5
- An elbow of a man with nail-patella syndrome (NPS) This is a view from a different angle of the same man's other elbow Glaucoma is also closely associated with nail-patella, specifically open-angled glaucoma (OAG). (wikipedia.org)
- C.194 a>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. (wikipedia.org)
- Although the joint anomalies in nail-patella syndrome may limit range of motion (ROM), the associated glaucoma and nephropathy may be the most serious complication. (medscape.com)
- Glaucoma should also be treated as in the general population, but with increased surveillance in all patients with nail-patella syndrome (eg, annual ophthalmologic examination with glaucoma screening). (medscape.com)
- There were also two other major issues that can develop with this syndrome: one relating to the eyes (glaucoma) and one relating to the kidneys. (nohandsbutours.com)
Dislocation3
- Dislocation in a superior and lateral direction is common if patellae are present. (medscape.com)
- Due to such abnormalities, individuals with NPS often exhibit partial dislocation (subluxation) of the patella and a limited range of movements of the knee(s), a deformity in which one or both legs bend outward at the knee ("bow-leg" or genu varum), and/or progressive degeneration, stiffness, tenderness, and Pain of the knee(s) (osteoarthritis). (orthopedicshealth.com)
- Bone deformity, such as knee valgus with lateral tibial plateau depression and patella dislocation, requires ongoing orthopedic follow-up and care. (medscape.com)
Nephropathy2
- [ 2 ] The incidence of nephropathy in nail-patella syndrome (NPS) is reported to be approximately 40% among patients with various degrees of dysfunction. (medscape.com)
- However, further investigation of a larger population of patients with nail-patella syndrome (ideally sporadic) is needed to determine if this genotype-phenotype correlation is valid outside large pedigrees of nail-patella syndrome, which may be simultaneously segregating nephropathy-related genes. (medscape.com)
Proteinuria3
- There is no specific treatment for nail-patella syndrome, but proteinuria and hypertension can be treated with ACE inhibitors. (msdmanuals.com)
- Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. (nih.gov)
- Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. (nih.gov)
Abnormalities4
- Nail-patella syndrome is a rare inherited disorder of mesenchymal tissue characterized by abnormalities of bones, joints, fingernails and toenails, and kidneys. (msdmanuals.com)
- Nail abnormalities are seen in mostly all people with nail-patella disorder. (mymmjdoctor.com)
- In our body, the connective tissue dis-ease, Hereditary-Oosteo-Onycho-Dysostosis (Nail-Patella Syndrome) is an inborn genetic dis-order with nail and bone abnormalities, characterized by dystrophic nails , knee deformities , deformities of elbows, renal dysplasia and pathognomonic iliac horns, which develop on posterolateral aspect of the ilium, linked to defects on chromosome 9q34 ( LMX1B gene ). (wellnessadvantage.com)
- Nail-Patella Syndrome Nail-patella syndrome is a rare hereditary disorder that results in abnormalities of the kidneys, bones, joints, toenails, and fingernails. (msdmanuals.com)
Onychoosteodysplasia1
- It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease or Turner-Kieser syndrome. (wikipedia.org)
Fingernails2
- The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). (wikipedia.org)
- The most common symptom of the NPS (nail-patella syndrome) is undeveloped or missing toenails and fingernails. (mymmjdoctor.com)
Lunula4
- Evidence Central , evidence.unboundmedicine.com/evidence/view/EBMG/451676/all/Nail_patella_syndrome__triangular_lunula____Image. (unboundmedicine.com)
- Muehrcke's lines refer to the horizontal white lines across the nails lying parallel to the lunula. (naildesigncode.com)
- The lines are visible to the eyes being parallel to the lunula and horizontal to the nail plate and the lines go right across the nail. (naildesigncode.com)
- In addition, in most people, the crescent-shaped pale area at the base of the nail (lunula) is malformed and/or triangular. (orthopedicshealth.com)
Toenails2
- This lab was about nail patella syndrome which is a dominant trait on chromosome 9, where the individual has oddly-shaped finger and toenails, as well has peculiar kneecaps. (gdrsd.org)
- Overview of Nail Disorders Many disorders can affect the nails, including deformity and dystrophy, injuries, infections, and ingrown toenails. (msdmanuals.com)
Patients with nail-patella2
- Although rarely palpable, they are radiographically visible in most patients with nail-patella syndrome. (medscape.com)
- If orthopedic surgery is planned, MRI prior to surgery is recommended because joint structures (ie, ligament, tendon and muscle insertions, vessel locations) are typically distorted in patients with nail-patella syndrome. (medscape.com)
LMX1B1
- Heterozygous loss-of-function mutations in LMX1B cause nail-patella syndrome. (medscape.com)
Elbows3
- Nail-patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. (wikipedia.org)
- Nail anomalies and contractures of the knees or elbows may be noted at birth. (medscape.com)
- Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. (nih.gov)
Diagnosis1
- The doctor can often make the diagnosis of nail dystrophies caused by a fungus by examining the nails. (msdmanuals.com)
Genetic disorder3
- Ehlers-Danlos Syndrome I made a presentation about a genetic disorder that my family and I have. (gdrsd.org)
- Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. (orthopedicshealth.com)
- And through my online research, I narrowed the cause of his special needs down to a rare genetic disorder called Nail-Patella Syndrome. (nohandsbutours.com)
Known as hereditary1
- It is sometimes also known as hereditary osteoonychosysplasia (HOOD) or Fong Syndrome. (mymmjdoctor.com)
Mutation1
- This mutation may cause a reduction in dorsalising signals, which then results in the failure to normally develop dorsal specific structures such as nails and patellae. (wikipedia.org)
Symptoms2
- The signs and symptoms are usually visible only on the four nails keeping the thumbnails in the safe zone. (naildesigncode.com)
- It's not a wise thing to do because nail diseases may be the symptoms of something severe that can harm your health. (naildesigncode.com)
Absent2
- [ 3 ] The patellae may be hypoplastic or absent, and they are frequently dislocated. (medscape.com)
- The patella may be absent, small, or irregularly shaped. (medscape.com)
Prognosis1
- Renal involvement is the major determinant of the prognosis for nail-patella syndrome (NPS). (medscape.com)
Linkage1
- [ 2 ] The third documented chromosomal linkage identified in humans was between the nail-patella syndrome locus and the ABO blood group on chromosome 9. (medscape.com)
Autosomal dominant trait2
- Nail-patella syndrome (NPS) is inherited as an autosomal dominant trait with a high degree of penetrance but variable expression. (medscape.com)
- Nail-patella Syndrome is inherited as an autosomal dominant trait. (orthopedicshealth.com)
Disease4
- This disease is easily detectable as this condition affects more than one nails at a time. (naildesigncode.com)
- Nails are an important part of our body but we often neglect Muehrcke's lines disease taking it lightly. (naildesigncode.com)
- Ellis-van Creveld (EVC) syndrome is a rare disease. (medscape.com)
- AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)
Nephrotic1
- Kidney diseases such as nephrotic syndrome. (naildesigncode.com)
Sjogren's1
- A 77-year-old Chinese woman with a past medical history of Sjogren's syndrome, nodular goitre and right-sided neck lymphadenopathy, presented to the gynaecological service for. (annals.edu.sg)
Underdeveloped and discolored1
- The nails may be missing or underdeveloped and discolored, split or pitted. (mymmjdoctor.com)
Disorders1
- A remarkable variety of endocrinologic disorders may cause virilization syndromes. (annals.edu.sg)
Deformities1
- Pincer nail deformity The terms deformities and dystrophies are often used interchangeably, sometimes even by doctors. (msdmanuals.com)
Irritable bowel sy2
- Hypothyroidism, irritable bowel syndrome, attention deficit hyperactivity disorder (ADHD), and thin tooth enamel are associated with NPS, but whether these are related or simply coincidences are unclear. (wikipedia.org)
- [ 15 ] or gastrointestinal problems such as constipation or irritable bowel syndrome. (medscape.com)
Diseases2
- Drugs, infections, and diseases can cause discoloration of the nails (chromonychia). (msdmanuals.com)
- Though they are merely some lines that appear on the nail plate, Muehrcke's lines are, sometimes, associated with other diseases. (naildesigncode.com)
Chromosome2
- Nail-patella syndrome is inherited via autosomal dominancy linked to aberrancy on human chromosome 9's q arm (the longer arm), 9q34. (wikipedia.org)
- Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome. (biobioseminars.com)
Bones1
- Histopathologic examination of fetuses diagnosed with EVC syndrome revealed that in the long bones of patients with this condition, chondrocyte disorganization exists in the cartilage's physeal growth zone. (medscape.com)
Mutations1
- In about 66% of patients diagnosed with EVC syndrome, EVC and EVC2 mutations can be identified via sequencing analysis. (medscape.com)