A number sign (#) is used with this entry because of evidence that autosomal recessive multiple epiphyseal dysplasia-4 (EDM4) is caused by homozygous mutation in the DTDST gene (SLC26A2; 606718) on chromosome 5q32. Clinical Features Juberg and Holt (1968) described 3 sisters and a brother with multiple epiphyseal dysplasia (MED). The parents were normal and not related. This family and some previously published families, including some with instances of parental consanguinity, led them to support recessive inheritance for one form of multiple epiphyseal dysplasia. MED with apparent recessive inheritance was also reported by Ribbing (1937), Waugh (1952), Hunt et al. (1967), and Gamboa and Lisker (1974). In some of these families, the differentiation from recessive pseudoachondroplastic spondyloepiphyseal dysplasia (177170) may not be clear.
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
Summary Clinical characteristics. Recessive multiple epiphyseal dysplasia (EDM4/rMED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have an abnormal finding at birth, e.g., clubfoot, clinodactyly, or (rarely) cystic ear swelling. Onset of articular pain is variable but usually occurs in late childhood. Stature is usually within the normal range prior to puberty; in adulthood, stature is only slightly diminished and ranges from 150 to 180 cm. Functional disability is mild. Diagnosis/testing. Diagnosis of EDM4/rMED is based on clinical and radiographic findings.
Morava et al. (2009) reviewed the spectrum of clinical features of the various autosomal recessive syndromes associated with cutis laxa, including ARCL1 (219100), ARCL2, de Barsy syndrome (219150), X-linked cutis laxa (304150), WSS, geroderma osteodysplasticum (GO; 231070), and Costello syndrome (218040). Relationship to Wrinkly Skin Syndrome Zlotogora (1999) pointed out that the 2 sisters reported by Reisner et al. (1971) as one of the first examples of the syndrome of cutis laxa with growth and developmental delay were reported later, along with their newborn brother, as examples of WSS. ... Since the wrinkly skin syndrome is not a true form of cutis laxa (Azuri et al., 1999), Zlotogora (1999) suggested use of the designation 'wrinkly skin syndrome' for all of the patients who were reported as affected with either one or the other of these 2 syndromes. ... Leao-Teles et al. (2010) suggested that a subgroup of patients with de Barsy syndrome belongs to the spectrum of ATP6V0A2-associated CDG, and recommended that mutations in the ATP6V0A2 gene be sought in patients diagnosed with de Barsy syndrome. ... Later, Patton and Baraitser (1993) reviewed 5 of the cases and concluded that the appropriate diagnosis was Costello syndrome (218040). Davies and Hughes (1994) reviewed case 7 from the paper and, on both history and clinical examination, made 'an unequivocal diagnosis of Costello syndrome.'
Clinical Features Alazami et al. (2016) reported a consanguineous Saudi family (10DG0257) with 2 affected brothers with a cutis laxa syndrome. The index case presented at 1 year of age with cutis laxa and multiple congenital anomalies. ... Autopsy of the female fetus showed right hypoplastic heart syndrome, with a hypoplastic right ventricle, tricuspid valve stenosis, and hypoplastic pulmonary artery. ... Molecular Genetics In 2 brothers from a Saudi family with a cutis laxa syndrome, Alazami et al. (2016) detected homozygosity for an arg212-to-trp mutation in the ATP6V1E1 gene (R212W; 108746.0002).
A number sign (#) is used with this entry because of evidence that autosomal recessive cutis laxa type IID (ARCL2D) is caused by homozygous mutation in the ATP6V1A gene (607027) on chromosome 3q13. Description Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). Clinical Features Van Asbeck et al. (2014) reported a German boy who had an apparently novel form of cutis laxa, with abnormal fat distribution, cardiomyopathy, and cataract.
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.
Polio-like syndrome is a general description of a group of symptoms which mimic polio , including rarely permanent paralysis . ... "Nonpolio causes of polio-like paralytic syndromes". Rev Infect Dis . 6 Suppl 2: S379-84. doi : 10.1093/clinids/6.supplement_2.s379 .
An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. Epidemiology It has been reported in only one family, with three affected patients. ... Spastic diplegia is common. Golabi-Ito-Hall syndrome shows atrial septal defects and severe growth restriction (head circumference and length) but unlike other syndromes in the Renpenning group, small testes are not observed. ... Genetic counseling Golabi-Ito-Hall syndrome follows an X-linked recessive pattern of inheritance.
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. ... Antenatal diagnosis Prenatal diagnosis may be performed by ultrasonography with careful examination of facial and cardiac structures. Genetic counseling As the syndrome has only been reported in males, X-linked recessive inheritance is possible, but autosomal recessive inheritance cannot be ruled out.
Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.
The patients had normal lymphocytes and serum calcium values, making the diagnosis of DiGeorge syndrome (188400) untenable. Guion-Almeida et al. (2000) described a Brazilian boy with the same abnormalities as those described by Kawashima et al. (1987), although middle and inner ear defects were also present.
Papular purpuric gloves and socks syndrome Specialty Dermatology Papular purpuric gloves and socks syndrome is a cutaneous condition characterized by pruritus , edema , and erythema of the hands and feet, occurring primarily in teenagers and young adults. [1] : 401 An association with parvovirus B19 has been described. [2] It was discovered by a duo of medical students; Kishorkumar Osman and Sulaiman Saloojee, during a ward round.
Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders. ... Most of the characteristics of GRACILE syndrome are present (fetal growth restriction, proximal tubulopathy and hepatopathy, as well as lactic acidosis) but they are often less severe.
A boy, born to consanguineous parents who were unrelated to the first family, was small for gestational age and developed a de Toni-Debre-Fanconi syndrome immediately after birth. He was hypotonic with brisk tendon reflexes and had a metabolic acidosis with a plasma lactate level of 8 mmol/l. ... Cerebral ultrasound showed scattered brainstem lesions compatible with a diagnosis of Leigh syndrome (256000). The patient's neurologic condition rapidly worsened and he died at 6 months of age. ... Cerebral MRI showed lesions scattered from the basal ganglia to the brainstem compatible with a diagnosis of Leigh syndrome. The last patient was a boy born to nonconsanguineous parents unrelated to all other families after an uneventful pregnancy and delivery. ... Ramos-Arroyo et al. (2009) noted that this child did not have evidence of altered iron metabolism, as had been observed in the patients reported by De Meirleir et al. (2003), and as has been observed in patients with the allelic disorder GRACILE syndrome (603358). Ramos-Arroyo et al. (2009) postulated that phenotypic variability even in individuals with the same BCS1L genotype may reflect tissue-specific expression of the mutant gene. ... INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive - Poor prenatal growth - Poor postnatal growth HEAD & NECK Ears - Deafness (in some patients) Eyes - Cataracts (rare) ABDOMEN Liver - Decreased liver function - Biopsy shows fibrosis - Cholestasis - Cholangitis - Hepatosiderosis - Microvesicular steatosis - Decreased complex III activity in liver tissue Gastrointestinal - Poor feeding GENITOURINARY Kidneys - Tubulointerstitial nephritis - Renal tubulopathy SKIN, NAILS, & HAIR Hair - Brittle hair (in some patients) MUSCLE, SOFT TISSUES - Hypotonia - Muscle weakness - Ragged red fibers seen on muscle biopsy - Decreased mitochondrial complex III activity - Other mitochondrial complex enzyme activities may also be decreased NEUROLOGIC Central Nervous System - Delayed psychomotor development - Mental retardation - Mitochondrial encephalopathy - Hyperreflexia - Spasticity - Motor dysfunction - Seizures - Abnormal EEG - Cerebral atrophy - Cerebellar atrophy - White matter lesions may occur in the thalami, basal ganglia, and periventricular white matter (see Leigh syndrome, 256000 ) METABOLIC FEATURES - Lactic acidosis - Metabolic acidosis - Hypoglycemia HEMATOLOGY - Coagulation defect due to decreased liver function LABORATORY ABNORMALITIES - Increased serum lactate - Abnormal liver function tests - Aminoaciduria - Decreased respiratory chain complex III activity in multiple tissues MISCELLANEOUS - Onset in infancy - May result in early death MOLECULAR BASIS - Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0001 ) ▲ Close
Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later. The severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy).
Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism , presence of extra fingers (polydactyly) and unusual facial features. ... Brain imaging may show a small anterior pituitary gland . Culler-Jones syndrome is caused by changes (mutations) in the GLI2 gene.
A number sign (#) is used with this entry because Culler-Jones syndrome (CJS) is caused by heterozygous mutation in the GLI2 gene (165230) on chromosome 2q14. Mutation in the GLI2 gene also causes holoprosencephaly-9 (HPE9; 610829), or HPE-like features, which may be considered at the severe end of the spectrum of features associated with GLI2 mutations. Description Culler-Jones syndrome (CJS) is an autosomal dominant disorder characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. ... Inheritance The transmission pattern of Culler-Jones syndrome in the family reported by Culler and Jones (1984) and Roessler et al. (2005) was consistent with autosomal dominant inheritance and incomplete penetrance.
Macrocephaly-capillary malformation Other names Macrocephaly-cutis marmorata telangiectatica congenita syndrome, Megalencephaly-cutis marmorata telangiectatica congenita syndrome A newborn child with M-CM syndrome. ... Macrocephaly-capillary malformation ( M-CM ) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous , vascular , neurologic , and limb abnormalities. ... "Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome" . American Journal of Human Genetics . 90 (6): 1108–15. doi : 10.1016/j.ajhg.2012.05.006 . ... "Macrocephaly-Capillary Malformation Syndrome in a Newborn With Tetralogy of Fallot and Sagittal Sinus Thrombosis". ... "Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature" .
A number sign (#) is used with this entry because some cases of megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) have been found to have somatic mutations in the PIK3CA gene (171834) on chromosome 3q26. ... This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. ... Gripp et al. (2009) noted that 2 of the patients had an initial diagnosis of megalencephaly, polymicrogyria-polydactyly hydrocephalus syndrome (MPPH; 603387), a similar syndrome with overlapping features. ... Mirzaa et al. (2012) reviewed the phenotypic features of 42 patients with a megalencephalic syndrome in an attempt to clarify and simplify the categorization and diagnosis of these disorders. ... Based on these findings, Mirzaa et al. (2012) proposed diagnostic criteria for the MCAP and MPPH syndromes, and postulated that the 2 disorders represent different, although overlapping, syndromes that may be caused by different genes involved in the same biologic pathway.
Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. ... MCAP is one of several overgrowth syndromes, including Klippel-Trenaunay syndrome, that are caused by mutations in the PIK3CA gene. ... Learn more about the gene associated with Megalencephaly-capillary malformation syndrome PIK3CA Inheritance Pattern MCAP is not inherited from a parent and does not run in families.
Pallister et al. (1974) described 2 brothers with a mental retardation syndrome characterized by an unusual physiognomy (frontal prominence), anterior cowlick, hypertelorism, antimongoloid orbital slant, and broad, flat nasal bridge like that of the OPD syndrome (311300), midline notch of upper lip and submucous cleft of the hard palate, absent upper central incisors, limited motion at the elbow due to subluxation, camptodactyly, and pes cavus. ... Goizet et al. (1999) reported 3 patients with the Pallister W syndrome and reviewed the 4 patients in 2 separate families that had previously been described.
A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars.
Clinical Features Beals (1967) gave this designation to a syndrome that he observed in many members of 2 families. ... Radial heads, posterior dislocation of (179200), may be an independent mendelian trait, although it occurs also as a component of several syndromes, e.g., nail-patella syndrome (161200), OPD syndrome (311300), Noonan syndrome (163950), tarsal-carpal coalition syndrome (186570), and ophthalmomandibulomelic dysplasia (164900).
A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. Epidemiology The disorder has been observed in numerous members of two families. Clinical description Dysplasia of the radiocapitellar joint was a constant finding in all affected individuals. Genetic counseling Transmission is autosomal dominant.
ISBN 978-0-8089-2366-4 . v t e Lupus nephritis Class I ( Minimal mesangial glomerulonephritis ) Class II ( Mesangial proliferative lupus nephritis ) Class III ( Focal proliferative nephritis ) Class IV ( Diffuse proliferative nephritis ) Class V ( Membranous nephritis ) Class VI ( Glomerulosclerosis ) v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy This article about a disease of the genitourinary system is a stub .
Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. ... Clinical description Only the Lambert-Eaton myasthenic syndrome is relatively frequent, occurring in about 1% of patients with small cell lung cancer. The other most common PNS are subacute cerebellar ataxia, limbic encephalitis (LE), opsoclonus-myoclonus (OM), retinopathies (cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR), Stiff-Person syndrome (SPS), chronic gastrointestinal pseudoobstruction (CGP), sensory neuronopathy (SSN), encephalomyelitis (EM) and dermatomyositis (see these terms).
Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor.
Find sources: "Marie Antoinette syndrome" – news · newspapers · books · scholar · JSTOR ( December 2017 ) This article needs additional citations for verification . ... Find sources: "Marie Antoinette syndrome" – news · newspapers · books · scholar · JSTOR ( December 2017 ) ( Learn how and when to remove this template message ) ( Learn how and when to remove this template message ) Marie Antoinette syndrome is an alleged condition of hair suddenly turning white. [1] The name comes from folklore about the hair of Queen Marie Antoinette of France turning stark white after her capture following the ill-fated flight to Varennes during the French Revolution . ... ] It has been found that some hairs can become colored again when stress is reduced. [3] [4] Causes [ edit ] The syndrome has been hypothesized to be a variant of alopecia areata diffusa or autoimmune non-scarring hair loss that selectively affects all pigmented hairs, leaving only the white hair behind. Marie Antoinette syndrome is caused by high levels of emotional stress, which, in turn, causes less pigmentation of the hair. [5] [ full citation needed ] These form the basis of most uses of the idea in fictional works. ... M. (June 2009). "Marie-Antoinette Syndrome" (PDF) . Archives of Dermatology . 145 (6): 656. doi : 10.1001/archdermatol.2009.51 .
Overview Antibiotic-associated diarrhea refers to passing loose, watery stools three or more times a day after taking medications used to treat bacterial infections (antibiotics). About 1 in 5 people who take antibiotics develop antibiotic-associated diarrhea. Most often, antibiotic-associated diarrhea is mild and requires no treatment. The diarrhea typically clears up within a few days after you stop taking the antibiotic. More-serious antibiotic-associated diarrhea requires stopping or sometimes switching antibiotics.