Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date.
They proposed the designation Schwarz-Lelek syndrome. However, Hennekam et al. (2010) suggested that the patient reported by Lelek (1961) had craniometaphyseal dysplasia (see 122860).
Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature.
Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 9p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the duplication was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material.
Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia).
Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence).
Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production.
Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
Balci et al. (2004) reported a brother and sister with an apparently previously undescribed syndrome characterized by unusual triangular facial appearance associated with cleft palate, malocclusion, severe midfacial hypoplasia, and mild sensorineural hearing loss.
Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG.
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus).
Ptosis was noted in the majority of patients, but oculomotor function was normal, except in 1 patient with Duane syndrome (see 126800). Muscle MRI views in 6 patients showed severe fatty muscle replacement, primarily affecting the thigh and involving the biceps femoris, sartorius, and vastus lateralis muscles, with consistent sparing of the rectus femoris and gracilis muscles.
5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.
Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly.
A number sign (#) is used with this entry because of evidence that pontocerebellar hypoplasia type 9 (PCH9) is caused by homozygous mutation in the AMPD2 gene (102771) on chromosome 1p13. Description Pontocerebellar hypoplasia type 9 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination (summary by Akizu et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). Clinical Features Akizu et al. (2013) reported 8 patients from 5 families with pontocerebellar hypoplasia. Most of the patients were diagnosed at birth or in the first year of life.
Neutrophilic lobular panniculitis Specialty Dermatology Neutrophilic lobular panniculitis is a cutaneous condition characterized by inflammation of the subcutaneous fat. [1] See also [ edit ] Bowel-associated dermatosis–arthritis syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported.
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. Epidemiology The syndrome has been described in three daughters born to healthy consanguineous parents.
Clinical Features In 3 daughters of healthy, consanguineous parents, Kohn et al. (1987) described spondyloepiphyseal dysplasia associated with mild to moderate mental retardation. A paternal aunt, married to a first cousin, was said to have a similarly affected offspring. Radiologic studies showed, in addition to an anterior tongue-like protrusion of the lumbar vertebral bodies and platyspondyly, absent dens epistrophei, flared iliac bones ('Mickey Mouse ear-shaped'), and short sacrosciatic notch. Bilateral deformity of the acetabulum with left femoral subluxation and bilateral coxa valga were present. The femoral necks were unusually narrow. Inheritance The transmission pattern of SEDT and mental retardation in the family reported by Kohn et al. (1987) was consistent with autosomal recessive inheritance.
It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.
Apudoma Specialty Oncology In pathology , an apudoma is an endocrine tumour that arises from an APUD cell [1] [2] from structures such as the ampulla of Vater . [3] They were historically thought to be derived from neural crest cells , [4] but this has since been shown to be untrue (see neuroendocrine tumor ). The term dates back to at least 1975. [5] Because the label "Apudoma" is very general, it is preferred to use a more specific term when possible. [ citation needed ] See also [ edit ] VIPoma Carcinoid tumor References [ edit ] ^ Welbourn RB (1977). "Current status of the apudomas" . Ann. Surg . 185 (1): 1–12. doi : 10.1097/00000658-197701000-00001 . PMC 1396259 . PMID 12724 . Full Free Text ^ Fukunaga Y, Hirata S, Tanimura S, et al. (2000). "Superficial undifferentiated small cell carcinoma of the esophagus showing an interesting growing pattern in histology".
Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system).
Mapping Abel et al. (1991) reviewed evidence suggesting that for individuals having frequent contacts with waters infested with the cercaria of Schistosoma mansoni, both infection intensities and reinfection after treatment depend, in large part, on their intrinsic susceptibility/resistance to infection, suggesting a role of genetic factors. In studies on 20 Brazilian pedigrees, they found results consistent with the existence of a codominant major gene controlling human susceptibility/resistance to infection by S. mansoni. The frequency of the deleterious gene was estimated to be 0.20 to 0.25; thus, about 5% of the population was predisposed to high infection, 60% was resistant, and 35% had an intermediate, although fairly good, level of resistance. Worldwide, 300 million individuals are said to be at risk of infection by schistosomes and around 200,000 die each year of schistosomiasis. Following up on the study of Abel et al. (1991), Marquet et al. (1996) performed a genomewide study on 142 Brazilian subjects belonging to 11 informative families to localize the susceptibility gene, referred to as SM1 by them.
Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact with humans, the parasite burrows into the skin, matures into another stage (schistosomula), then migrates to the lungs and liver, where it matures into the adult form. The adult worm then migrates to its preferred body part (bladder, rectum, intestines, liver, portal venous system (the veins that carry blood from the intestines to liver, spleen, lungs), depending on its species. Schistosomiasis is common in many tropical and subtropical areas worldwide.
Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.
There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; 145900) because there is considerable overlap in clinical presentation. ... Mutations in the MPZ gene (159440) had been observed as the cause of congenital hypomyelination syndrome, as had mutations in the EGR2 gene.