A number sign (#) is used with this entry because of evidence that capillary malformation-arteriovenous malformation-1 (CMAVM1) is caused by heterozygous mutation in the RASA1 gene (139150) on chromosome 5q14. Description Capillary malformation-arteriovenous malformation-1 is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). The CMs are usually multifocal and are surrounded by a pale halo with a central red dot; they increase in number with age. The AVMs generally occur in the brain or on the face or extremities. Intracranial AVMs include vein of Galen aneurysmal malformations (VGAMs). Parkes Weber syndrome is a specific type of CMAVM that presents with limb overgrowth, more commonly affecting one of the lower extremities (Eerola et al., 2003; Revencu et al., 2013; Johnson and Navarro, 2017).

Clinical Features The features of Klippel-Trenaunay-Weber syndrome are large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. The disorder clinically resembles Sturge-Weber syndrome (185300), and indeed the 2 have been associated in some cases (Harper, 1971). Lindenauer (1965) described a brother and sister with Klippel-Trenaunay syndrome. Both patients had varicosity, hypertrophy, and hemangioma, but no arteriovenous fistula. Lindenauer (1965) suggested that patients who also have arteriovenous fistula have a different disorder that might be called Parkes Weber syndrome, since Weber (1907) described cases of this type as well as cases seemingly identical to those of Klippel and Trenaunay (1900).

Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome has three characteristic features: a red birthmark called a port-wine stain , overgrowth of soft tissues and bones, and vein malformations such as varicose veins or malformations of deep veins in the limbs. The overgrowth of bones and soft tissues usually begins in infancy and is most often only affects one leg. However, it can also affect the arms or sometimes the upper body area (torso). The overgrowth can cause pain, a feeling of heaviness, and make the affected leg (or arm) hard to move.

A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. Epidemiology Prevalence is unknown but around 1,000 cases have been reported in the literature so far. Clinical description The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy (LLD) may vary from a slight difference to 10 cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The LLD may become apparent during infancy, childhood or adolescence and is clearly visible by comparison of the level of the gluteal and posterior knee folds.

Overview Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome ― also called KTS ― is a rare disorder found at birth (congenital) involving problems in the development of certain blood vessels, soft tissues (such as skin and muscles), bones and sometimes the lymphatic system. The main features include a red birthmark (port-wine stain), ranging in color from pink to reddish-purple, atypical vein or lymphatic development (malformations), and overgrowth of tissues and bones. These findings most often affect one leg but may occur in an arm or elsewhere. Although there is no cure for KTS , treatment goals are to improve symptoms and prevent complications. Symptoms People who have KTS may have the following features, which can range from mild to more extensive: Port-wine stain.

Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color.

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. Epidemiology Less than 20 cases have been reported the literature, including two pairs of sibs. Clinical description Most patients had non-specific peripheral (myopathy) or central (brain anomaly) causes of hypotonia. Some had a non-specific myopathy, with consequent severe scoliosis. Other features, reported in one or two patients with CFZ, included brain anomalies (ventriculomegaly, reduced white matter, neuronal heterotopias, small foci of necrosis with microcalcifications, small pons and brainstem with enlarged pre-pontine and pontocerebellar cisterns), absence of the pectoralis major muscle with an ulnar deviation of the hand (Poland sequence), laryngostenosis, unexplained intermittent arterial hypertension with facial flushing and sweating, hydronephrosis, glanular hypospadias, and talipes equinovarus. Intelligence may be normal but mental disability has been reported. One patient also presented with a gastrointestinal disturbance with biopsy-proven villous atrophy.

Carey-Fineman-Ziter syndrome (CFZS) is a very rare genetic muscular disorder present at birth (congenital myopathy) characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate ( Pierre-Robin sequence ), among other symptoms. CFZS is caused by mutations in the gene MYMK that encodes a protein necessary for muscle development. Treatment depends on the symptoms. In one case report a patient with scoliosis was treated with a rod placement.

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: "Carey Fineman Ziter syndrome" – news · newspapers · books · scholar · JSTOR ( September 2018 ) ( Learn how and when to remove this template message ) Carey Fineman Ziter syndrome Autosomal recessive pattern is the inheritance manner of this condition Specialty Medical genetics Carey Fineman Ziter syndrome is a rare genetic condition. Fewer than 10 cases have been reported in the literature. [1] Contents 1 Signs and symptoms 2 Genetics 3 Pathogenesis 4 Diagnosis 4.1 Differential diagnosis 5 Treatment 6 History 7 References Signs and symptoms [ edit ] Several features have been described in this syndrome. These include cleft palate micrognathia laryngostenosis developmental delay small pons scoliosis myopathy intermittent episodes of hypertension Poland sequence Möbius sequence hydronephrosis bilateral clubfeet ( talipes ) Genetics [ edit ] Mutations in the gene Myomaker ( MYMK ) have been shown to be responsible for this condition. [2] The gene is located on the long arm of chromosome 9 (9q34.2). Inheritance is autosomal recessive. Pathogenesis [ edit ] The Myomaker gene encodes a transmembrane protein that is found on the surface of muscle cells.

A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. Etiology Mutations in KCNJ2 , which encodes the alpha subunit of the potassium channel Kir2.1, account for approximately 60% of cases. Genetic counseling AS is inherited as an autosomal dominant trait although sporadic cases have been reported. Penetrance is extremely variable. Management and treatment Treatment depends on the individual and their reaction to potassium. Patients with severe arrhythmias may require a pacemaker.

Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent. In people with Andersen-Tawil syndrome, the most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers (the ventricles), and long QT syndrome.

In a case series that evaluated for KCNJ2 pathogenic variants in individuals with typical (>2 ATS features) and atypical (only 1 ATS feature or catecholaminergic polymorphic ventricular tachycardia [CPVT]) features of ATS, the proportion of individuals with an identified pathogenic variant was 75% (15/20) in those with typical ATS, 71% (5/7) in those with the cardiac phenotype alone, 100% (2/2) in those with periodic paralysis, and 7% (2/28) in those with CPVT [Kimura et al 2012].

Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis . It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. About 60% of cases of Andersen-Tawil syndrome are caused by mutations in the KCNJ2 gene. The cause of the remaining cases remains unknown. This condition is inherited in an autosomal dominant pattern.

Trends in Cardiovascular Medicine . 28 (2): 94–99. doi : 10.1016/j.tcm.2017.07.010 . hdl : 10150/627826 .

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits. Epidemiology Prevalence of neuroferritinopathy is unknown. To date fewer than 50 cases have been reported. Clinical description The disease presents typically in the fourth to sixth decades, although cases with symptoms in their late teens have been observed. Symptoms are restricted to the nervous system and include chorea, dystonia, bradykinesia, dystonic dysarthria, and Parkinsonian features. Choreiform movements tend to occur in the face, orolingual musculature and upper limbs and onset is usually asymmetrical.

Neuroferritinopathy Other names Adult-onset basal ganglia disease Cerebellum and basal ganglia Specialty Neurology Neuroferritinopathy is a genetic neurodegenerative disorder characterized by the accumulation of iron in the basal ganglia , cerebellum , and motor cortex of the human brain. Symptoms, which are extrapyramidal in nature, progress slowly and generally do not become apparent until adulthood. [1] These symptoms include chorea , dystonia , and cognitive deficits which worsen with age. [2] [3] This disorder is autosomal dominant [4] and is caused by mutations in the gene encoding the light chain subunit of the ferritin protein. Wild type ferritin functions as a buffer for iron, sequestering it and controlling its release. Thus, mutations in the light chain of ferritin result in the accumulation of iron in the brain which can be imaged using MRI . [2] Currently, neuroferritinopathy is the only neurodegenerative disease with an iron accumulation in the brain classified as an autosomal dominant syndrome. [4] Treatment of neuroferritinopathy is focused on managing symptoms associated with chorea and dystonia using standard medications for each. [2] The disorder is progressive and symptoms become worse with age. Fewer than 100 cases of neuroferritinopathy have been reported since its identification in 2001. [2] Its incidence has been largely localized to Northeast England [4] suggesting a founder effect . [2] Due to its genetic nature, current research is focused on therapeutic management of the symptoms caused by the disorder. [4] Contents 1 Signs and symptoms 1.1 Diagnostic findings 1.2 Physical symptoms 2 Causes 3 Mechanism 4 Diagnosis 4.1 Classification 4.2 Neuroimaging 4.3 Physiological testing 4.4 Genetic testing 5 Treatment 6 Epidemiology 7 Research 8 References 9 External links Signs and symptoms [ edit ] Neuroferritinopathy has several distinguishing signs and symptoms.

Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other.

Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions ( chorea ), rhythmic shaking ( tremor ), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria).

A number sign (#) is used with this entry because of evidence that this form of neurodegeneration with brain iron accumulation (NBIA), here designated 'NBIA3,' is caused by heterozygous mutation in the FTL gene (134790) on chromosome 19q13. See NOMENCLATURE section. For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). Description Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by Gregory et al., 2009). Clinical Features Curtis et al. (2001) described a dominantly inherited late-onset basal ganglia disease variably presenting with extrapyramidal features similar to those of Huntington disease (143100) or parkinsonism.

A number sign (#) is used with this entry because of evidence that mutation in the TRPM7 gene (605692), encoding a member of the transient receptor potential cation channel family, influences susceptibility to the disorder. See also PARK7 (606324) for discussion of a similar phenotype, which has been shown to be caused by a double homozygous mutation in the DJ1 gene (602533.0006) in 1 family. Description Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.

A number sign (#) is used with this entry because of evidence that Feingold syndrome-2 (FGLDS2) is caused by hemizygous deletion of the MIR17HG gene (609415) on chromosome 13q31. Description Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). For a discussion of genetic heterogeneity of Feingold syndrome, see FGLDS1 (164280).

Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals. Individuals with Feingold syndrome type 1 or type 2 have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly ), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly ) of the second and third toes or the fourth and fifth toes. Additional common features of both types of Feingold syndrome include an unusually small head size (microcephaly ), a small jaw (micrognathia ), a narrow opening of the eyelids (short palpebral fissures ), and mild to moderate learning disabilities.

A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia.

A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability. Epidemiology The exact prevalence is unknown. Feingold syndrome type 1 (FS1) accounts for the vast majority of FS cases. An estimated 120 cases have been reported to date. Clinical description Characteristic clinical findings of FS1 are present at birth with digital anomalies being the most frequent and including: brachymesophalangy (most commonly affecting the 2nd and 5th fingers), thumb hypoplasia and toe syndactyly. Microcephaly and facial dysmorphism (short palpebral fissures, micrognathia) are also noted in most cases. The most serious manifestations that are noted in approximately half of cases are esophageal and duodenal (rarely jejunal or anal) atresia, with or without tracheo-esophageal fistula.

Feingold syndrome Other names Oculodigitoesophagoduodenal syndrome Feingold Syndrome is inherited in an autosomal dominant fashion. Specialty Medical genetics Feingold syndrome (also called oculodigitoesophagoduodenal syndrome ) is a rare autosomal dominant hereditary disorder . It is named after Murray Feingold , an American physician who first described the syndrome in 1975. Until 2003, at least 79 patients have been reported worldwide. [1] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 References 6 External links Presentation [ edit ] Feingold syndrome is marked by various combinations of microcephaly , limb malformations , esophageal and duodenal atresias , and sometimes learning disability or mental retardation . [2] Genetics [ edit ] Feingold syndrome is caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene (MYCN) which is located on the short arm of chromosome 2 (2p24.1). This syndrome has also been linked to microdeletions in the MIR17HG locus which encodes a micro RNA cluster known as miR-17/92. [3] Diagnosis [ edit ] The diagnosis is based on the following clinical findings: microcephaly clinodactyly and shortness of index and little fingers syndactyly of 2nd & 3rd and 4th & 5th toe short palpebral fissures esophageal and/or duodenal atresia Treatment [ edit ] There is no known treatment for the disorder, but surgery for malformations, special education, and treatment of hearing loss are important. [4] References [ edit ] ^ Tészás A, Meijer R, Scheffer H, et al.