A number sign (#) is used with this entry because of evidence that Seckel syndrome-7 (SCKL7) is caused by compound heterozygous mutation in the NIN gene (608684) on chromosome 14q22. For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). Clinical Features Dauber et al. (2012) reported 2 sisters, 22 years and 18 years of age, who had severe pre- and postnatal growth retardation, microcephaly, and developmental delay.
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. ... Differential diagnosis Differential diagnosis includes cervical dystonia, Dopa-responsive dystonia, Tourette syndrome, familial cortical myoclonus, Wilson disease, spinocerebellar ataxia type 3 (SCA3) and type 14 (SCA14), ataxia with vitamin E deficiency, genetic disorders with myoclonus as a major component (e.g.
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis). The movement problems usually first appear in childhood or early adolescence with the development of myoclonus.
A number sign (#) is used with this entry because of evidence that myoclonic dystonia-26 (DYT26) is caused by heterozygous mutation in the KCTD17 gene (616386) on chromosome 22q12. Description Myoclonic dystonia-26 is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015). Clinical Features Mencacci et al. (2015) reported 2 unrelated families with myoclonic dystonia.
Myoclonus dystonia Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous muscle contraction causing abnormal posture. ... Ethanol often ameliorates the symptoms well, and so the syndrome is also called "Alcohol-responsive dystonia". ... However, there are several treatment methods that have been found to be effective for helping to reduce the symptoms associated with the syndrome. Medications [ edit ] Many drugs used to treat myoclonus dystonia do not have a significant impact individually, but when combined, can work on different brain mechanisms to best alleviate symptoms. The method of treatment used depends on the severity of the symptoms presented in the individual, and whether the underlying cause of the syndrome is known. Benzodiazepines [ edit ] Benzodiazepines such as clonazepam improve tremors caused by the myoclonus aspect of this syndrome by binding allosterically to GABA A ionotropic receptors, causing an influx of chloride ions that produce an inhibitory effect that can calm myoclonic jerks. [4] [11] Antiepileptics [ edit ] Antiepileptics like valproate must act upon GABA receptors and manipulate ionic conductance to reduce tremors and spasms in myoclonus dystonia. ... "The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted" . Eur.
Doheny et al. (2002) described in detail the motor symptoms, psychiatric disorders, and neuropsychologic deficits in 3 families with myoclonus-dystonia syndrome who carried mutations in the SGCE gene. ... Valente et al. (2005) noted the clinical phenotypic overlap of myoclonic dystonia, essential myoclonus, 'jerky' dystonia, Ramsay Hunt syndrome (159700), and benign hereditary chorea (118700). ... Orth et al. (2007) suggested that there may be a novel susceptibility gene for both myoclonus dystonia and Tourette syndrome. Molecular Genetics Using a positional cloning approach, Zimprich et al. (2001) identified 5 different heterozygous loss-of-function mutations in the SGCE (604149.0001-604149.0005) in patients with myoclonus-dystonia syndrome. ... In a Dutch family with myoclonus-dystonia syndrome spanning 5 generations, previously reported by Doheny et al. (2002), Foncke et al. (2003) identified a mutation in the SGCE gene (604149.0007). ... In affected members of a large Dutch family with myoclonus-dystonia syndrome reported by Korten et al. (1974), Foncke et al. (2006) identified a heterozygous mutation in the SGCE gene (604149.0012).
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. ... Differential diagnosis Differential diagnosis of CEC includes Sturge-Weber syndrome (see this term) without nevus flammeus and other conditions such as congenital folate malabsorption or adverse effects of methotrexate, antifolate agents and radiotherapy of leukemic children.
The association of bilateral occipital calcifications with epilepsy and, in most cases, with celiac disease has been recognized as a new syndrome, the etiology of which is unknown (Gobbi et al., 1992).
Differential diagnosis Differential diagnoses include the other forms of OCA and X-linked recessive ocular albinism (XLOA) as well as syndromes with albinism as a feature such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II.
However, Caucasian individuals with Prader-Willi syndrome (PWS; 176270) or Angelman syndrome (AS; 105830), who are haploinsufficient for the OCA2 gene, often show hypopigmentation.
Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia).
Renal–hepatic–pancreatic dysplasia Other names Ivemark II syndrome, Renohepaticopancreatic dysplasia Gross photo of liver and pancreas showing multiple cysts in the latter in a patient with renal–hepatic–pancreatic dysplasia Renal–hepatic–pancreatic dysplasia is an autosomal recessive congenital disorder characterized by pancreatic fibrosis , renal dysplasia and hepatic dysgenesis. ... "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia" . ... "Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome)" . Diagn Pathol . 2 : 24. doi : 10.1186/1746-1596-2-24 . ... "Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome". Acta Paediatr . 48 (1): 1–11. doi : 10.1111/j.1651-2227.1959.tb16011.x .
Epidemiology The annual incidence of idiopathic nephrotic syndrome varies by ethnicity and region ranging from 1/5,900-85,000 children, of which 70-98% are steroid sensitive. ... Rarely, patients with initially steroid-sensitive nephrotic syndrome develop secondary steroid resistance, leading to progressive renal failure.
Contents 1 Causes 2 Diagnosis 3 Management 4 Citations 5 General references Causes [ edit ] Medications Anticholinergic agents Opioids Botulinum toxin Alpha-2 receptor antagonists Clonidine Barbiturates Zonisamide Topiramate Physical agents Tumors Burns Radiation Surgery Scars Sores Dermatological X-linked hypohidrotic ectodermal dysplasia Incontinentia pigmenti Bazex disease Fabry disease Miliaria Sjögren syndrome Systemic sclerosis Graft-versus-host disease Neuropathic Multiple system atrophy Dementia with Lewy bodies Multiple sclerosis Cerebrovascular accident Tumour Encephalitis Cervical myelopathy Diabetes mellitus Guillain–Barré syndrome Hereditary sensory and autonomic neuropathy Alcoholism Amyloidosis Ross syndrome Pure autonomic failure Horner's syndrome Diagnosis [ edit ] Sweat is readily visualized by a topical indicator such as iodinated starch ( Minor test ) or sodium alizarin sulphonate, both of which undergo a dramatic colour change when moistened by sweat. ... In autoimmune diseases, such as Sjögren syndrome and systemic sclerosis , treatment of the underlying disease using immunosuppressive drugs may lead to improvement in hypohidrosis.
A number sign (#) is used with this entry because of evidence that Seckel syndrome-10 (SCKL10) is caused by compound heterozygous mutation in the NSMCE2 gene (617246) on chromosome 8q24. For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). Clinical Features Payne et al. (2014) studied 2 unrelated 46,XX women with severe short stature and microcephaly; facial dysmorphism with small jaw and prominent midface; extremely insulin-resistant diabetes, fatty liver, and hypertriglyceridemia developing in childhood; and primary gonadal failure.
A number sign (#) is used with this entry because of evidence that multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is caused by homozygous mutation in the ISCA1 gene (611006) on chromosome 9q21. ... For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711). Clinical Features Shukla et al. (2017) reported 4 children from 2 unrelated families of Indian descent with a severe and progressive neurologic disease resulting in death in the first 5 years of life; all 4 patients were deceased at the time of the report.
ISCA1 -related multiple mitochondrial dysfunctions syndrome is inherited in an autosomal recessive manner. ... Diagnosis ISCA1 -related multiple mitochondrial dysfunctions syndrome ( ISCA1 -MMDS) is a severe neurodegenerative condition; consensus clinical diagnostic criteria have not been published. ... Molecular Genetic Testing Used in ISCA1 -Related Multiple Mitochondrial Dysfunctions Syndrome View in own window Gene 1 Method Proportion of Probands with Pathogenic Variants 2 Detectable by Method ISCA1 Targeted testing for c.259G>A 4/5 3, 4 Sequence analysis 5 5/5 3 Gene-targeted deletion/duplication analysis 6 None reported 7 1. ... In ISCA1 -related multiple mitochondrial dysfunctions syndrome ( ISCA1 -MMDS), the constellation of extensive leukodystrophy, pigmentary retinopathy, and biochemical evidence of mitochondrial involvement is suggestive of the disorder, but these features can also be seen in other conditions. ... See Multiple Mitochondrial Dysfunctions Syndrome: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.
A number sign (#) is used with this entry because of evidence that Joubert syndrome-32 (JBTS32) is caused by homozygous mutation in the SUFU gene (607035) on chromosome 10q24. ... For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). Clinical Features De Mori et al. (2017) reported 4 children from 2 unrelated consanguineous families with developmental delay, intellectual disability, and additional neurologic features associated with cerebellar abnormalities.
Other causes include Menkes kinky hair syndrome and hypervitaminosis A . [2] It can take about three weeks to appear. [3] Diagnosis [ edit ] The morphological appearance can be helpful in determining the cause of a periosteal reaction (for example, if other features of periostitis are present), but is usually not enough to be definitive. ... External links [ edit ] Classification D DiseasesDB : 31520 v t e Bone and joint disease Bone Inflammation endocrine : Osteitis fibrosa cystica Brown tumor infection : Osteomyelitis Sequestrum Involucrum Sesamoiditis Brodie abscess Periostitis Vertebral osteomyelitis Metabolic Bone density Osteoporosis Juvenile Osteopenia Osteomalacia Paget's disease of bone Hypophosphatasia Bone resorption Osteolysis Hajdu–Cheney syndrome Ainhum Gorham's disease Other Ischaemia Avascular necrosis Osteonecrosis of the jaw Complex regional pain syndrome Hypertrophic pulmonary osteoarthropathy Nonossifying fibroma Pseudarthrosis Stress fracture Fibrous dysplasia Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint Chondritis Relapsing polychondritis Other Tietze's syndrome Combined Osteochondritis Osteochondritis dissecans Child leg: hip Legg–Calvé–Perthes syndrome tibia Osgood–Schlatter disease Blount's disease foot Köhler disease Sever's disease spine Scheuermann's_disease arm: wrist Kienböck's disease elbow Panner disease v t e Physiology of bone and cartilage Bone Bone density Bone remodeling Bone healing Bone resorption Osseointegration Ossification Osteolysis Bone age Periosteal reaction Cartilage Chondrogenesis Joint Range of motion Teeth Chewing Cementogenesis
Differential diagnosis Other causes of retinitis pigmentosa and sensorineural hearing loss should be considered in the differential diagnosis (Usher syndromes, types 1, 2, and 3; Alström syndrome; Kearns-Sayre syndrome; Sjögren-Larsson syndrome). Refsum disease should not be confused with infantile Refsum disease a misnomer that belongs to the Zellweger syndrome spectrum. Antenatal diagnosis Prenatal diagnosis can be performed if a disease-causing mutation is known in the family.
A number sign (#) is used with this entry because this form of peroxisomal biogenesis disorder (PBD9B) is caused by homozygous or compound heterozygous mutation in the PEX7 gene (601757) on chromosome 6q23. Description While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1; 215100), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (266500) and patients carried this diagnosis. Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see 214100.
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina , the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which often becomes apparent in childhood.
Zellweger syndrome spectrum disorders can readily be distinguished from classic Refsum disease on clinical grounds. ... Pathogenic variants in one of a minimum of nine different genes cause Usher syndrome type I. Inheritance is autosomal recessive. ... Pathogenic variants in either CLRN1 or HARS1 cause Usher syndrome type III. Inheritance is autosomal recessive. Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy, the insulin resistance syndrome, liver involvement with cirrhosis, and multiple organ failure. ... Sjögren-Larsson syndrome is caused by biallelic pathogenic variants in ALDH3A2 .
Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa . Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern.
Clinical Features Giacheti et al. (2007) reported a Brazilian family in which a mother and her 2 daughters had a marfanoid habitus and a specific pattern of language and learning disabilities. All had tall stature, high forehead, long face, hypotelorism, long thin nose, and thin hands and feet. Neuropsychologic development and language acquisition were delayed; intelligence testing showed scores within the normal range, but the authors stated that 'complementary evaluations showed impairment in visual and auditory cues and a mild deficit in comprehension.' The parents were not related. Inheritance Giacheti et al. (2007) suggested autosomal dominant inheritance for this disorder based on the finding of 3 affected females in 2 generations, but noted that X-linked dominant inheritance with reduced or absent male expression could not be ruled out. INHERITANCE - Autosomal dominant GROWTH Height - Tall stature (>97th centile) HEAD & NECK Head - High forehead Face - Long face Eyes - Hypotelorism Nose - Long thin nose SKELETAL Hands - Long hands Feet - Long feet NEUROLOGIC Central Nervous System - Language disabilities - Defects in auditory cue processing - Speech impairment - Learning disabilities - Defects in visual cue processing ▲ Close
Clinical Features Arneson et al. (1980) observed mild EDS in 4 of 6 sibs, together with a defect in platelet aggregation in response to collagen. The defect was partially corrected by normal plasma or cryoprecipitate. Plasma of affected sibs failed to support aggregation. The addition of affinity-purified normal human fibronectin restored aggregation. These workers suggested a functionally abnormal fibronectin (135600) inasmuch as FN is an important connective tissue adhesive glycoprotein and is the putative collagen receptor of platelets. Hammerschmidt et al. (1982) reported that during pregnancy in the proposita, the ability of her plasma to support collagen-induced aggregation of normal platelets improved.
Clinical Features Prakash et al. (2003) described an Asian Indian family with autosomal dominant progressive nephropathy, with features of both focal segmental glomerulosclerosis (see 603278) and Alport syndrome (104200). Seven members of the family were affected, and there was male-to-male transmission. ... Linkage was excluded to the region 2q36-q37, where the genes COL4A3 (120070) and COL4A4 (120131), mutant in autosomal recessive Alport syndrome (203780), reside. Linkage was also excluded to 22q11.2, the location of the MYH9 gene (160775), which is mutant in some cases of Fechtner syndrome (see 155100).
Clinical Features Duodenal atresia (223400) predominantly represents an isolated entity, but also can be part of a complexly structured intestinal malformation such as apple peel small bowel syndrome (243600) or familial intestinal polyatresia syndrome (FIPA; 243150). ... Because of the constant association with malrotation and the normal length of the small bowel, Pumberger et al. (2002) proposed differentiating the pathoanatomic findings in these patients from those of classic apple peel small bowel syndrome.
Megarbane et al. (1998) differentiated this condition from otopalatodigital syndrome (311300) by the lack of characteristic facies and clefting, and by the different mode of inheritance. They also ruled out a number of other less similar conditions, including Larsen syndrome (245600), Martsolf syndrome (212720), dyschondrosteosis (127300), and frontometaphyseal dysplasia (305620).