A number sign (#) is used with this entry because rhabdoid tumor predisposition syndrome-1 (RTPS1) is caused by heterozygous germline mutation in the SMARCB1 gene (601607) on chromosome 22q11. ... Description The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999). ... Genetic Heterogeneity of Rhaboid Tumor Predisposition Syndrome See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13. ... Molecular Genetics Germline Mutations in the SMARCB1 Gene In affected members of 3 different families with the rhabdoid predisposition syndrome, Sevenet et al. (1999) identified heterozygous germline loss-of-function mutations in the SMARCB1 gene (see, e.g., 601607.0003).
A number sign (#) is used with this entry because rhabdoid tumor predisposition syndrome-2 (RTPS2) is caused by heterozygous germline mutation in the SMARCA4 gene (603254) on chromosome 19p13. Description Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors.
Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term). Epidemiology The United Kingdom registry estimated that the age-standardized annual incidence of extra-CNS RT is about 1/2,000,000 children, which might be underestimated. Altogether, in infants less than one year, RT may account for 20% of renal cancers, and 15% of soft-part tumors. In the same age range, ATRT may be the most frequent malignant tumor of the posterior fossa.
Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdominal mass, peripheral nerve palsy). In about 90% of cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene. In rare cases, it may be caused by a mutation in the SMARCA4 gene . No standard care exists for RT, although there are many ongoing studies.
Other rarer phenotypes are Kearns-Sayre syndrome (KSS) and mitochondrial neurogastrointestinal encephalopathy (MNGIE). ... However, other phenotypes include Kearns-Sayre syndrome and mitochondrial neurogastrointestinal encephalopathy (MNGIE). ... Sensorineural hearing loss of varying severity and gastrointestinal dysmotility (including irritable bowel syndrome-like symptoms and low body mass index) were also common. ... For more information about this phenotype, see MNGIE. Kearns-Sayre syndrome (KSS). RRM2B pathogenic variants have been identified in one individual with onset before age 20 years of PEO-plus / Kearns-Sayre syndrome (PEO, pigmentary retinopathy, sensorineural hearing loss, and increased CSF protein), which is similar to single mtDNA deletion disorders [Pitceathly et al 2011]. ... Differential Diagnosis The first reported human diseases attributed to mutation of RRM2B were associated with a quantitative loss of mtDNA copies – the so-called mtDNA depletion syndromes. To date, mutation of the following nine nuclear genes has been associated with mtDNA depletion syndromes: DGUOK , MPV17 , TWNK , POLG , SUCLA2 , SUCLG1 , TK2 , TYMP , and RRM2B.
The predominant seizure type(s) in a given individual vary depending on which clinical syndrome is present. The most common GRIN2A -related speech disorder and epilepsy is epilepsy-aphasia syndromes (EAS), a spectrum of disorders that includes: Landau-Kleffner syndrome (LKS); epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS); childhood epilepsy with centrotemporal spikes (CECTS); atypical childhood epilepsy with centrotemporal spikes (ACECTS); and autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD) [Tsai et al 2013]. ... Penetrance is not clearly different for males and females. Nomenclature Landau-Kleffner syndrome (LKS) has also been referred to as epileptic acquired aphasia. ... Atypical childhood epilepsy with centrotemporal spikes (ACECTS) has been known as atypical benign partial epilepsy (ABPE), pseudo-Lennox syndrome, and atonic-benign childhood epilepsy with centrotemporal spikes. ... While GRIN2A is the gene most commonly associated with EAS, the majority of individuals with this group of syndromes do not have an identified genetic cause. ... Treatment for epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS) and Landau-Kleffner syndrome (LKS) includes AEDs such as valproic acid, benzodiazepines, and corticosteroids.
Neurologic findings – in the absence of brain malformations – are limited to a mild pyramidal syndrome (i.e., mild spasticity of the lower limbs). ... Focal seizures should prompt the clinician to search for a focal dysplasia or unilateral polymicrogyria [Passemard et al 2009]. West syndrome has not been reported. EEG may be normal or show focal spikes. ... Many PMs are also known as m icro c ephaly p rimary h ereditary or MCPH)* although some may have different names for historical reasons; PM with short stature (i.e., Seckel syndrome*); Syndromic PM, a heterogeneous group in which PM is associated with extracerebral anomalies and growth impairment (e.g., Rubinstein-Taybi syndrome, Cornelia de Lange syndrome, Meier-Gorlin syndrome, DYRK1A intellectual disability syndrome) * MCPH and Seckel syndrome may be further subdivided by the presence of cortical malformations and/or chorioretinopathy. Genes associated with the three broad phenotypic categories of PM (excluding those with a true clinically recognizable "syndromic gestalt" such as Rubinstein-Taybi syndrome and Cornelia de Lange syndrome) are listed in Table 2. ... MCPH is inherited in an autosomal recessive manner with the exception of WDFY3 -MCPH, which is inherited in an autosomal dominant manner. 3. Meier-Gorlin syndrome is inherited in an autosomal recessive manner with the exception of GMNN Meier-Gorlin syndrome, which is inherited in an autosomal dominant manner. 4.
Subgroups included CMD clinically close to merosin deficiency but without white matter alterations, rigid spine syndrome, Ullrich syndrome (254090) with marked hyperextensibility of distal joints, and other cases without features described above, some of which may represent mild forms of the dystroglycanopathies (see, e.g., MDDGA1; 236670). ... Inheritance An excess of males with rigid spine syndrome had been observed, suggesting that this syndrome may be an autosomal recessive disorder with variable penetrance and sex-linked expression (Mussini et al., 1982). ... This was the first description of a locus for a merosin-positive form of CMD. In a family with rigid spine syndrome, Flanigan et al. (2000) demonstrated linkage to the RSMD1 locus on chromosome 1p36-p35. ... Genetic Heterogeneity Moghadaszadeh et al. (1998) identified several families with features of rigid spine syndrome that did not show linkage to 1p36. ... Reevaluation of muscle biopsies from 3 patients diagnosed with rigid spine syndrome with mutations in the SEPN1 gene revealed typical minicore lesions in 2 of them and dystrophic changes in the third.
A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Epidemiology Prevalence is unknown. Clinical description Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is due to recessive mutations in the selenoprotein N ( SEPN1 ) gene, whereas recessive mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD). In the latter forms, there may also be a histopathologic continuum with CCD caused by dominant RYR1 mutations, reflecting the common genetic background. Etiology The pathogenetic mechanisms of RYR1 -related MmD are currently not well understood, but are likely to involve altered excitability and/or changes in calcium homeostasis. The presence of calcium-binding motifs within the selenoprotein N protein also suggests a possible role in calcium handling.
In 3 (8.3%) of 36 families with fetal akinesia deformation/lethal pterygium syndrome, McKie et al. (2014) identified 3 different homozygous nonsense or intragenic deletion mutations in the RYR1 gene (180901.0039-180901.0041).
This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Multi/minicore myopathy" – news · newspapers · books · scholar · JSTOR ( April 2019 ) ( Learn how and when to remove this template message ) Multi/minicore myopathy Specialty Cardiology Multi/minicore myopathy is a congenital myopathy usually caused by mutations in either the SEPN1 and RYR1 genes. It is chartacterised the presence of multifocal, well-circumscribed areas with reduction of oxidative staining and low myofibrillar ATPase on muscle biopsy. It is also known as Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia and Multiminicore disease with external ophthalmoplegia. Contents 1 Presentation 2 Genetics 3 Diagnosis 3.1 Differential diagnosis 4 Management 5 Epidemiology 6 History 7 References Presentation [ edit ] This section does not cite any sources .
PMC 6158357 . PMID 30275744 . Parkinsonian syndromes are a group of movement disorders characterized by classical motor symptoms such as tremors, bradykinesia, and rigidity. ... "Clinical differentiation of parkinsonian syndromes: prognostic and therapeutic relevance". ... PMID 24033795 . ^ Fabrizi, Monaco, Dalla Libera (2004). "Parkinsonian syndrome following MDMA (Ecstasy) addiction". ... PMID 15261874 . ^ Carod-Artal FJ (2003). "[Neurological syndromes linked with the intake of plants and fungi containing a toxic component (I). Neurotoxic syndromes caused by the ingestion of plants, seeds and fruits]".
Neurodevelopmental condition Childhood disintegrative disorder Other names Heller syndrome, disintegrative psychosis, dementia infantilis Specialty Psychiatry , pediatrics Usual onset 3-4 years of age Differential diagnosis Regressive autism , Rett's syndrome , lead poisoning , mercury poisoning , HIV infection , brain tumor , certain seizure disorders (e.g. Landau-Kleffner syndrome ), and some neurodegenerative diseases (e.g. variant Creutzfeldt-Jakob disease ) [1] [2] Childhood disintegrative disorder ( CDD ), also known as Heller's syndrome and disintegrative psychosis , is a rare condition characterized by late onset of developmental delays—or severe and sudden reversals—in language , social function , and motor skills . ... CDD has some similarity to autism , and is sometimes considered a low-functioning form of it. [3] [4] In May 2013, CDD, along with other sub-types of PDD ( Asperger's syndrome , autism, and PDD-NOS ), was fused into a single diagnostic term called " autism spectrum disorder " under the new DSM-5 manual. [5] CDD was originally described by Austrian educator Theodor Heller (1869–1938) in 1908, 35 years before Leo Kanner and Hans Asperger described autism . Heller had previously used the name dementia infantilis for the syndrome. [6] An apparent period of fairly normal development is often noted before a regression in skills or a series of regressions in skills. [7] The age at which this regression can occur varies, [8] but typically after 3 years of normal development. [9] The regression can be so dramatic that the child may be aware of it, and may in its beginning even ask, vocally, what is happening to them. ... S2CID 12331005 . ^ "Childhood Disintegrative Disorder (Heller's Syndrome)" . ^ Mouridsen SE (June 2003).
Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.
Chronic solvent-induced encephalopathy (CSE) is a condition induced by long-term exposure to organic solvents , often but not always in the workplace, that lead to a wide variety of persisting sensorimotor polyneuropathies and neurobehavioral deficits even after solvent exposure has been removed. [1] [2] [3] This syndrome can also be referred to as "psycho-organic syndrome", "organic solvent syndrome", "chronic painter's syndrome", "occupational solvent encephalopathy ", "solvent intoxication", "toxic solvent syndrome", "painters disease", " psycho-organic syndrome ", "chronic toxic encephalopathy", and "neurasthenic syndrome". [1] [2] [3] [4] [5] The multiple names of solvent-induced syndromes combined with inconsistency in research methods makes referencing this disease difficult and its catalog of symptoms vague. [1] [3] [6] [7] Contents 1 Symptoms 1.1 Neurological 1.2 Sensory alterations 1.3 Psychological 2 Causes 3 Diagnosis 3.1 Classification 4 Treatment 5 History 6 References Symptoms [ edit ] Two characteristic symptoms of CSE are deterioration of memory (particularly short-term memory ), and attention impairments. ... Variability in the research methods studying CSE makes characterizing these symptoms difficult, and some may be questionable regarding whether they are actual symptoms of solvent-induced syndromes, simply because of how infrequently they appear. [7] Characterizing of CSE symptoms is more difficult because CSE is currently poorly defined, and the mechanism behind it is not understood yet. ... This may, in part, be a reason for the syndrome's lack of widespread recognition. ... Her paper described a case of workers suffering from carbon disulfide intoxication at a rubber manufacturing company and coined the term "psycho-organic syndrome". [ citation needed ] Studies of solvent effects on intellectual functioning, memory, and concentration were carried out in the Nordic countries, with Denmark spearheading the research. Growing awareness of the syndrome in the Nordic countries occurred in the 1970s.
Chronic testicular pain Other names Chronic orchialgia 1 - 6: Epididymis 7: Vas deferens Differential diagnosis Varicocele , spermatocele , Henoch–Schönlein purpura , post-vasectomy pain syndrome , chronic pelvic pain syndrome [1] Chronic testicular pain is long-term pain of the testes . [2] [3] It is considered chronic if it has persisted for more than 3 months. [1] Chronic testicular pain may be caused by injury , infection , surgery , cancer or testicular torsion and is a possible complication after vasectomy . [2] IgG4-related disease is a more recently identified cause of chronic orchialgia. [4] One author describes the syndromes of chronic testicular pain thus: "The complaint is of a squeezing deep ache in the testis like the day after you got kicked there, often bilateral or alternating from one side to the other, intermittent, and, most commonly, associated with lower back pain. ... Other stresses that might cause low back pain are imaginative coital positions, jogging, sitting hunched over a computer, long car driving, or other such positions of unsupported seating posture that flattens the normal lumbar lordosis curve." [5] : p.237 Contents 1 Differential diagnosis 2 Diagnosis 3 Treatment 4 References Differential diagnosis [ edit ] Post-vasectomy pain syndrome Diagnosis [ edit ] Testing for gonorrhea and chlamydia should be routinely performed. [2] Treatment [ edit ] Treatment is often with NSAIDs and antibiotics however, this is not always effective. [2] References [ edit ] ^ a b Leslie, Stephen (2 May 2019).
Differential diagnosis Differential diagnosis includes SN-like nystagmus, which is defined as a condition where children have nystagmus, head nodding and abnormal head position similar to SN but symptoms are associated with low vision (for example optic nerve hypoplasia, achromatopsia, congenital stationary night blindness, Bardet-Biedl syndrome), neurologic diseases (optic pathway glioma (chiasmal), arachnoid cyst, opsoclonus-myoclonus syndrome, diencephalic syndrome, and Leigh syndrome (see these terms), or systemic abnormalities.
A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. ... However, there are an increasing number of genes involved in sex development that may lead to hypospadias, either as a part of syndrome or a result of gonadal dysgenesis. ... Differential diagnosis Differential diagnoses include congenital adrenal hyperplasia in girls and, in patients with an XY karyotype, androgen insensitivity syndrome, steroid 5-alpha-reductase deficiency and 17-beta-hydroxysteroid dehydrogenase 3 deficiency. In addition, infants are screened for WT1 mutations to exclude Denys-Drash syndrome. Antenatal diagnosis Ultrasound diagnosis is sometimes possible since the tip of the penis can be smaller and quadrangular.
For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see 300633. Clinical Features Hypospadias is a common malformation in which the urethra opens on the ventral side of the penis. It is considered a complex disorder with both genetic and environmental factors involved in the pathogenesis (summary by Thai et al., 2008). Inheritance Lowry and Kliman (1976) suggested, on the basis of 2 kindreds, that an autosomal dominant form may account for a small number of hypospadias cases. Cote et al. (1979) described 4 males with hypospadias of the midshaft of the penis in 3 generations, with 1 male-to-male transmission and transmission through a female.
Benign familial infantile epilepsy Other names Benign familial infantile seizures (BFIS), benign familial infantile convulsions (BFIC) Specialty Neurology Benign familial infantile epilepsy ( BFIE ) is an epilepsy syndrome. [1] Affected children, who have no other health or developmental problems, develop seizures during infancy . ... The brain appears normal on MRI scan. [2] [3] A family history of epilepsy in infancy distinguishes this syndrome from the non-familial classification (see benign infantile epilepsy ), though the latter may be simply sporadic cases of the same genetic mutations. ... There are several genes responsible for this syndrome, on chromosomes 2, 16 and 19. It is generally described as idiopathic, meaning that no other neurological condition is associated with it or causes it. ... ISBN 0-7817-5777-0 ^ Panayiotopoulos CP. The Epilepsies: Seizures, Syndromes and Management. Oxfordshire: Bladon Medical Publishing; 2005. ch. six.
Cleft lip and alveolus are isolated, non-syndromic anomalies in 70% of cases. The remaining 30% of cases are seen in about 300 syndromes where cleft lip/alveolus is just one of the featured anomalies. Non-syndromic clefts are believed to be caused by a combination of genetic and environmental factors. ... Differential diagnosis The presence of associated malformations allows for differentiation between isolated and syndromic forms. Antenatal diagnosis Antenatal diagnosis is often made during prenatal ultrasound.
A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. ... Severe hypophosphatemia can cause muscle weakness. Etiology This syndrome is caused by phosphatonin secretion by the causative tumor. ... Diagnostic methods The finding of isolated hypophosphatemia, urinary phosphate wasting in the absence of the renal Fanconi syndrome and without hereditary hypophosphatemic rickets, should prompt the search for a causative tumor. ... Differential diagnosis Differential diagnosis may include other forms of hypophosphatemic osteomalacia (X-linked, autosomal dominant or recessive hypophosphatemic rickets) as well as primary or acquired renal Fanconi syndrome. Management and treatment Definitive treatment is with surgical resection of the tumor.
Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones ( osteomalacia ). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood ( hypophosphatemia ).
This tumor may cause tumor-induced osteomalacia, a paraneoplastic syndrome , by the secretion of FGF23, which has phosphaturic activity (by inhibition of renal tubular reabsorption of phosphate and renal conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D ). ... "Tumor induced osteomalacia: A forgotten paraneoplastic syndrome?". Oral Oncol . 48 (2): e9–10. doi : 10.1016/j.oraloncology.2011.09.011 .
LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome (see these terms).
Laryngotracheoesophageal cleft has been observed in the Opitz GBBB syndrome (145410) (Cote et al., 1981). It also occurs in the Pallister-Hall syndrome (146510) (Hall et al., 1980). Ondrey et al. (2000) concluded that posterior laryngeal clefts are an uncommon manifestation of Pallister-Hall syndrome and occur only in severely affected patients.
A congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. Epidemiology Prevalence of this form of LC is unknown, but it is thought to be very rare. To date, about 30 cases have been reported in the literature. . Clinical description Patients have constant aspirations and severe respiratory and swallowing disorders with a high risk of pulmonary infection. Etiology The causes underlying development of this anomaly are unknown. Management and treatment Parenteral nutrition may be required temporarily in patients with high-grade LCs due to the high risk of aspirations.
A cleft can occur as an isolated abnormality, as part of an underlying syndrome or condition (such as Opitz-Frias , VACTERL , Pallister-Hall , CHARGE ), or with other associated malformations.
Europe and Morocco both experienced outbreaks of TOCP poisoning from contaminated abortifacients and cooking oil , respectively. [1] [2] The disorder may contribute to the chronic multisymptom illnesses of the Gulf War veterans [3] [4] as well as aerotoxic syndrome (especially tricresyl phosphate poisoning ) The exact cause of the syndrome is unknown, although it has been associated with inhibition of patatin-like phospholipase domain-containing protein 6 (PNPLA6, aka neuropathy target esterase). There is no specific treatment, and recovery is usually incomplete, affecting only sensory nervous system , while motor neuropathy persists. [5] See also [ edit ] Aerotoxic syndrome Gulf War syndrome References [ edit ] ^ Morgan, John P; Penovich, Patricia (August 1978).
Overview Metatarsalgia (met-uh-tahr-SAL-juh) is a condition in which the ball of your foot becomes painful and inflamed. You might develop it if you participate in activities that involve running and jumping. There are other causes as well, including foot deformities and shoes that are too tight or too loose. Although generally not serious, metatarsalgia can sideline you. Fortunately, at-home treatments, such as ice and rest, often relieve symptoms. Wearing proper footwear with shock-absorbing insoles or arch supports might prevent or minimize future problems with metatarsalgia.
Contents 1 Pathology 2 Prognosis 3 See also 4 References 5 External links Pathology [ edit ] These tumours may be seen in the context of Peutz–Jeghers syndrome or be sporadic. [1] Large tumours are more likely to be sporadic. Small incidental tumours are more likely to be syndromic. It has a distinctive appearance under the microscope , from which it derives its name. ... "Malignant ovarian sex cord tumor with annular tubules in a patient with Peutz-Jeghers syndrome: a case report" . Mod Pathol . 13 (4): 466–70. doi : 10.1038/modpathol.3880079 . ... You can help Wikipedia by expanding it . v t e v t e Tumors of the female urogenital system Adnexa Ovaries Glandular and epithelial / surface epithelial- stromal tumor CMS: Ovarian serous cystadenoma Mucinous cystadenoma Cystadenocarcinoma Papillary serous cystadenocarcinoma Krukenberg tumor Endometrioid tumor Clear-cell ovarian carcinoma Brenner tumour Sex cord–gonadal stromal Leydig cell tumour Sertoli cell tumour Sertoli–Leydig cell tumour Thecoma Granulosa cell tumour Luteoma Sex cord tumour with annular tubules Germ cell Dysgerminoma Nongerminomatous Embryonal carcinoma Endodermal sinus tumor Gonadoblastoma Teratoma / Struma ovarii Choriocarcinoma Fibroma Meigs' syndrome Fallopian tube Adenomatoid tumor Uterus Myometrium Uterine fibroids/leiomyoma Leiomyosarcoma Adenomyoma Endometrium Endometrioid tumor Uterine papillary serous carcinoma Endometrial intraepithelial neoplasia Uterine clear-cell carcinoma Cervix Cervical intraepithelial neoplasia Clear-cell carcinoma SCC Glassy cell carcinoma Villoglandular adenocarcinoma Placenta Choriocarcinoma Gestational trophoblastic disease General Uterine sarcoma Mixed Müllerian tumor Vagina Squamous-cell carcinoma of the vagina Botryoid rhabdomyosarcoma Clear-cell adenocarcinoma of the vagina Vaginal intraepithelial neoplasia Vaginal cysts Vulva SCC Melanoma Papillary hidradenoma Extramammary Paget's disease Vulvar intraepithelial neoplasia Bartholin gland carcinoma
A number sign (#) is used with this entry because of evidence that a syndrome involving coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) is caused by compound heterozygous mutation in the MITF gene (156845) on chromosome 3p13. ... The parents in both families had congenital sensorineural hearing loss, blue irides, fair skin, and premature graying of the hair, but did not display dystopia canthorum, consistent with Waardenburg syndrome type 2A (WS2A; 193500); the boy had 1 brother and the girl had 3 sibs who were affected similarly to the parents. Molecular Genetics In 2 unrelated children with COMMAD, born of parents who exhibited features consistent with MITF-associated Waardenburg syndrome type 2A, George et al. (2016) sequenced the MITF gene and identified compound heterozygous mutations in both children (156845.0003 and 156845.0010-156845.0012). ... INHERITANCE - Autosomal recessive HEAD & NECK Head - Macrocephaly Face - Frontal bossing - Micrognathia (in 1 patient) Ears - Hearing loss, profound congenital sensorineural - Preauricular pits - Posteriorly rotated ears Eyes - Shallow orbits - Lack of iris pigment - Severe microphthalmia - Coloboma - Microcornea with pannus (in 1 patient) - Dense bilateral cataracts (in 1 patient) Mouth - Wide palatine ridges (in 1 patient) CHEST Ribs Sternum Clavicles & Scapulae - Diffuse expansion of anterior ends of ribs - Increased density of anterior ribs SKELETAL - Osteopetrosis Spine - Increased density of vertebral bodies Limbs - Increased density of femoral heads SKIN, NAILS, & HAIR Skin - Lack of pigment in skin Hair - Lack of pigment in hair NEUROLOGIC Central Nervous System - Hypotonia, mild generalized (in 1 patient) MISCELLANEOUS - Based on report of 2 patients (last curated January 2017) - Heterozygous family members have Waardenburg syndrome, type 2A (WS2A, 193500 ) MOLECULAR BASIS - Caused by mutation in the microphthalmia-associated transcription factor gene (MIFT, 156845.0003 ) ▲ Close