Mutations in the same gene also cause Roifman syndrome in which there are many overlapping features but Roifman is distinguished by immunodeficiency. ... Differential diagnosis The differential diagnosis should include MOPD type 2 and other syndromes associated with primordial dwarfism, such as Seckel syndrome and microcephalic primordial dwarfism due to RTTN deficiency.
MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.
A number sign (#) is used with this entry because microcephalic osteodysplastic primordial dwarfism type I (MOPD1), or Taybi-Linder syndrome, is caused by homozygous or compound heterozygous mutation in the RNU4ATAC gene (601428), encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14. ... Clinical Features Majewski and Spranger (1976) described a form of brachymelic primordial dwarfism that resembled Seckel syndrome (210600) except for abnormal body proportions and short limbs; Seckel syndrome patients have normal proportions. ... Sigaudy et al. (1998) reported 4 new cases of microcephalic osteodysplastic primordial dwarfism I, or Taybi-Linder syndrome, and characterized the condition as including severe microcephalic dwarfism with short limbs and dislocated hips and elbows, skin abnormalities, and sparsity of hair and eyebrows. ... Leutenegger et al. (2006) applied this approach to the study of 4 inbred Taybi-Linder syndrome patients, including 2 sibs, originating from the Mediterranean region: Algeria, Turkey, and Morocco. ... Nomenclature Three types of osteodysplastic primordial dwarfism had been defined and distinguished from Seckel syndrome by Majewski and Goecke (1982) and Majewski et al. (1982, 1982).
Differential diagnosis Differential diagnoses include hypoparathyroidism and pseudohypoparathyroidism, which can usually be excluded by normal serum levels of parathyroid hormone, Kenny-Caffey syndrome type 1, neurodegeneration with iron accumulation, Cockayne syndrome and Aicardi-Goutières syndrome (see these terms).
Calcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans (Koller et al., 1979; Harrington et al., 1981; Forstl et al., 1992). ... Nomenclature Idiopathic calcinosis of the basal ganglia is frequently referred to as 'Fahr disease' or 'Fahr syndrome,' which is a misnomer (Moskowitz et al., 1971; Klein and Vieregge, 1998; Manyam, 2005). ... The disorder was referred to as 'Fahr' syndrome. Beyme (1945) reported a familial disorder characterized by basal ganglia deposits. Nichols et al. (1961) reported a family in 3 generations of which members had a syndrome of calcification of the basal ganglia and hypocalcemia.
PMID 15258221 . ^ "NINDS Fahr's Syndrome Information Page" . National Institute of Neurological Disorders and Stroke. ... "Severe cerebral calcification in a case of LEOPARD syndrome" . Intern. Med . 47 (21): 1925–9. doi : 10.2169/internalmedicine.47.1365 . ... "Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism". ... Disord . 13 (2): 345–9. doi : 10.1002/mds.870130225 . PMID 9539353 . ^ "NINDS Fahr's Syndrome Information Page" . National Institute of Neurological Disorders and Stroke. ... Zentralblatt für Allgemeine Pathologie und Pathologische Anatomie . 50 : 129–133. ^ Fahr's disease at Who Named It? ^ Chavany-Brunhes syndrome at Who Named It? ^ http://rarediseases.info.nih.gov/GARD/QnA.aspx?
A number sign (#) is used with this entry because idiopathic basal ganglia calcification-5 (IBGC5) is caused by heterozygous mutation in the PDGFB gene (190040) on chromosome 22q13. Description Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013).
Description Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic (summary by Volpato et al., 2009). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). Clinical Features Volpato et al. (2008) reported a large multigenerational Italian family from South Tyrol with IBGC. Twenty individuals over the age of 40 had positive CT scans revealing intracranial calcifications, with 14 having bilateral moderate to severe calcification of the basal ganglia, dentate nucleus, and subcortical white matter.
A third member was thought to show initial stages of a similar syndrome. Six members with calcifications but without neurologic signs were younger than 25 years.
Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking ( gait ), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2 , PDGFRB , and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.
Differential diagnosis The diagnosis of CDA III should be considered following exclusion of other causes of macrocytosis (B12 deficiency, folic acid deficiency or other megaloblastic anemias such as pernicious anemia or thiamine-responsive megaloblastic anemia syndrome; see these terms), acquired dyserythropoiesis (myelodysplastic syndrome, acute erythroid leukemia), hemolytic anemias (hereditary spherocytosis) or microcytic anemias (thalassemias and iron deficiency anemias). Gilbert syndrome (see these terms) and infections should be also excluded.
Description Congenital dyserythropoietic anemia type III is a rare disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow (Lind et al., 1995). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see 224120. Clinical Features In a mother and all 3 of her children, Wolff and Van Hofe (1951) described mild anemia, macrocytosis in the peripheral blood, and giant multinuclear erythroblasts in the bone marrow. Bergstrom and Jacobsson (1962) reported 15 cases in a family from northern Sweden. They called the disorder hereditary benign erythroreticulosis. Weatherly et al. (1974) described a form of congenital dyserythropoietic anemia in a Filipino mother and 2 of her daughters.
Congenital dyserythropoietic anemia type III Specialty Hematology Congenital dyserythropoietic anemia type III ( CDA III ) is a rare autosomal dominant disorder characterized by macrocytic anemia , bone marrow erythroid hyperplasia and giant multinucleate erythroblasts . [1] New evidence suggests that this may be passed on recessively as well. Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References 7 Further reading 8 External links Presentation [ edit ] The signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma). [2] Genetics [ edit ] CDA type III is transmitted autosomal dominantly.
It was first reported by Cecil Charles Worster-Drought in 1933 [1] and is therefore also known as Worster-Drought syndrome. It is caused by a mutation in the ITM2B gene (also known as BRI2); a different mutation of the same gene causes the similar syndrome of familial Danish dementia . ... PMID 21610757 . ^ J Ghiso; Révész, T; Holton, J; Rostagno, A; Lashley, T; Houlden, H; Gibb, G; Anderton, B; et al. (2001). "Chromosome 13 dementia syndromes as models of neurodegeneration".
A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.
A number sign (#) is used with this entry because of evidence that familial British dementia (FBD) is caused by heterozygous mutation in the ITM2B gene (603904) on chromosome 13q14. Familial Danish dementia (FDD; 117300) is also caused by mutation in the ITM2B gene. Clinical Features Worster-Drought et al. (1933) described 9 affected persons in 3 generations. Onset occurred between 40 and 60 years of age with early onset of spasticity with increased deep tendon reflexes and tone. Muscular rigidity was present only late in the illness, with legs maintained rigidly in extension with pronounced resistance to passive movement in any direction.
Benign infantile epilepsy ( BIE ), also known as benign infantile seizures ( BIS ), is an epilepsy syndrome of which several forms have been described. The International League Against Epilepsy (ILAE) classify two main forms of the syndrome (familial and nonfamilial) [1] though several other forms have been described in the academic literature. ... ISBN 0-7817-5777-0 ^ Panayiotopoulos CP. The Epilepsies: Seizures, Syndromes and Management. Oxfordshire: Bladon Medical Publishing; 2005. ch. 6.
It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, Melnick-Needles syndrome, and terminal osseous dysplasia.
The differential diagnosis should also include syndromes associated with premature fusion of one coronal suture (Crouzon, Pfeiffer and Saethre-Chotzen syndromes; see these terms), a distinction that mostly relies on the presence of limb anomalies in syndromic forms.
Contents 1 Presentation 2 Relation to Interstitial Cystitis 3 Treatment 4 References Presentation [ edit ] Glomerulations can be found in the 3 quadrants of the bladder, appearing as checkerboard/lattice patterns, splotches, or pinpoint-sized red marks on the bladder. [2] [3] Relation to Interstitial Cystitis [ edit ] The identification of glomerulations as diagnostic criteria for interstitial cystitis/ bladder pain syndrome is unclear. [4] In 1987, the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) developed diagnostic criteria for IC which included the presence of glomerulations or petechial hemorrhages. [1] The purpose of the NIDDK diagnostic criteria was to facilitate comparable patient groups for research. [5] It was not intended to set strict criteria for the diagnosis of IC. ... Journal of Urology . 140 (1): 203–206. doi : 10.1016/S0022-5347(17)41529-1 . ^ "How is a finding of glomerulations characterized in interstitial cystitis/bladder pain syndrome (IC/BPS)?" . www.medscape.com . 2018 . ... "The Role of Glomerulations in Bladder Pain Syndrome: A Review" . Journal of Urology . 195 (1): 19–25. doi : 10.1016/j.juro.2015.06.112 . ^ Hanno, Philip M (2002).
The paroxysm is said to be similar to the hypertensive episodes described by Page in 1935, and has been colloquially referred to as "Page's Syndrome". These episodes can occur after diencephalic stimulation. [1] The exact cause of pseudopheochromocytoma is unknown, though it is thought to be related to episodic dopamine discharge. ... "Episodic dopamine discharge in paroxysmal hypertension. Page's syndrome revisited". Archives of Internal Medicine . 146 (7): 1315–20. doi : 10.1001/archinte.1986.00360190079011 . ... "Episodic dopamine discharge in paroxysmal hypertension. Page's syndrome revisited". Archives of Internal Medicine . 146 (7): 1315–20. doi : 10.1001/archinte.1986.00360190079011 .
Fixed drug eruption is a rare toxic dermatosis disorder characterized by the appearance of a drug-induced rash which typically manifests with small (diameter less than 8 cm), erythematous, round, sometimes painful, plaques that result in long-lasting pigmentation and which recurr (usually at the same site) upon reexposure to the causative medication.
Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated. ... When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns.
Sclerocornea has been observed in association with microphthalmia as part of the MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome (309801). Mapping In a consanguineous 5-generation Pakistani family in which 6 living members were affected by isolated congenital microphthalmia, Bessant et al. (1998) used whole-genome linkage analysis to map the gene to 14q32.
A number sign (#) is used with this entry because of evidence that isolated microphthalmia-8 (MCOP8) is caused by homozygous mutation in the ALDH1A3 gene (600463) on chromosome 15q26. For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600). Clinical Features Fares-Taie et al. (2013) studied a consanguineous Pakistani family in which the proband was a girl born with severe bilateral clinical anophthalmia. Cerebral MRI at 1 week of age showed small optic nerves and a small optic chiasm. Autism was diagnosed at 3 years of age. There were 2 healthy sisters in the family, and a fourth pregnancy was terminated due to detection of apparent bilateral anophthalmia with normal brain structures on prenatal ultrasound.
Necrotising hepatopancreatitis (NHP), is also known as Texas necrotizing hepatopancreatitis (TNHP), Texas Pond Mortality Syndrome (TPMS) and Peru necrotizing hepatopancreatitis (PNHP), [1] is a lethal epizootic disease of farmed shrimp . ... ISBN 0-9624529-9-8 . v t e Diseases of crustaceans Bitter crab disease Crayfish plague Gaffkaemia Infectious hypodermal and haematopoietic necrosis Necrotising hepatopancreatitis Paragonimiasis Taura syndrome White spot syndrome Yellowhead disease This veterinary medicine –related article is a stub .
Clinical description Clinical expression of renal PHA1 is variable: in general, patients present with a salt wasting syndrome in the neonatal period, with weight loss, failure to thrive, vomiting and dehydration. ... Differential diagnosis Differential diagnoses include generalized PHA1, congenital adrenal hyperplasia (CAH) associated with 21-hydroxylase deficiency or 3-beta-hydroxysteroid dehydrogenase deficiency, hypoaldosteronism (HA) due to aldosterone deficiency, antenatal or infantile Bartter syndrome (in particular, type 2 Bartter syndrome caused by ROMK mutations) and transient PHA (see these terms).
Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration . Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression . It is caused by by mutations in the mineralocorticoid receptor gene ( NR3C2 ).
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a hormone called aldosterone that helps regulate sodium levels. However, people with PHA1 have high levels of aldosterone. There are two types of PHA1 distinguished by their severity, the genes involved, and how they are inherited.
A number sign (#) is used with this entry because autosomal dominant pseudohypoaldosteronism type I (PHA1A) is caused by heterozygous mutation in the mineralocorticoid receptor gene (MCR, NR3C2; 600983) on chromosome 4q31. Description Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease.
Osteomata are also found in Gardner's syndrome . Larger craniofacial osteomata may cause facial pain, headache, and infection due to obstructed nasofrontal ducts. Often, craniofacial osteoma presents itself through ocular signs and symptoms (such as proptosis ). [1] Contents 1 Variants 2 See also 3 References 4 External links Variants [ edit ] " Osteoma cutis , but there is currently no way of detecting if and when this is likely to occur. " Fibro-osteoma " " Chondro-osteoma " Osteoma of the frontal sinus seen on x-ray Osteoma of the frontal sinus on CT Osteoma See also [ edit ] Osteosclerosis Familial adenomatous polyposis Exostosis Gardner syndrome Ganglion cyst References [ edit ] ^ Michael S. ... External links [ edit ] radio/498 at eMedicine - Osteoid osteoma derm/301 at eMedicine - Osteoma cutis Humapth #4724 (Pathology images) Classification D ICD - 10 : D16 ICD - 9-CM : 213.0 ICD-O : 9180/0, 9191/0, 9200/0 MeSH : D010016 v t e Tumours of bone and cartilage Diaphysis Multiple myeloma Epithelia Adamantinoma Primitive neuroectodermal tumor Ewing family Ewing's sarcoma Metaphysis Osteoblast Osteoid osteoma Osteoblastoma Osteoma / osteosarcoma Chondroblast Chondroma / ecchondroma / enchondroma Enchondromatosis Extraskeletal chondroma Chondrosarcoma Mesenchymal chondrosarcoma Myxoid chondrosarcoma Osteochondroma Osteochondromatosis Chondromyxoid fibroma Fibrous Ossifying fibroma Fibrosarcoma Epiphysis Chondroblast Chondroblastoma Myeloid Giant-cell tumor of bone Other Notochord Chordoma v t e Skin cancer of nevi and melanomas Melanoma Mucosal melanoma Superficial spreading melanoma Nodular melanoma lentigo Lentigo maligna / Lentigo maligna melanoma Acral lentiginous melanoma Amelanotic melanoma Desmoplastic melanoma Melanoma with features of a Spitz nevus Melanoma with small nevus-like cells Polypoid melanoma Nevoid melanoma Melanocytic tumors of uncertain malignant potential Nevus / melanocytic nevus Nevus of Ito / Nevus of Ota Spitz nevus Pigmented spindle cell nevus Halo nevus Pseudomelanoma Blue nevus of Jadassohn–Tièche Cellular Epithelioid Deep penetrating Amelanotic Malignant Congenital melanocytic nevus ( Giant Medium-sized Small-sized ) Balloon cell nevus Dysplastic nevus / Dysplastic nevus syndrome Acral nevus Becker's nevus Benign melanocytic nevus Nevus spilus