Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. [orpha.net]

Acronym HTOCD Synonyms Cantu syndrome Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Weiner, Bernard Gonik, Caroline Crowther, and Stephen Robson present an evidence-based approach to the available management options, equipping you with the most appropriate strategy for each patient. [books.google.com]

[…] features are usually present from childhood. [nature.com]

• Large Pericardial Effusion

  Of note, the PDA in Cantú syndrome is frequently described as being very large. Pericardial effusion sometimes requires pericardiocentesis and ultimately pericardial stripping to prevent reaccumulation of the effusion. [ncbi.nlm.nih.gov]

• Failure to Thrive

  […] to thrive- microcephaly syndrome 2 Cases 55654 Hypotrichosis simplex 38 Cases 1573 Hypotrichosis with juvenile macular degeneration 50 Cases 330029 Hypotrichosis-deafness syndrome 1 Case 2266 Hypotrichosis-intellectual disability, Lopes type 2 Cases [azkurs.org]

  […] to thrive Vomiting Short clavicles Behavioral abnormality Fever Delayed speech and language development Glossoptosis Abnormality of finger Anemia Abnormality of the neck Nystagmus Wide cranial sutures Aplasia/Hypoplasia of the nipples Redundant neck [mendelian.co]

  The skin is lax and atrophic mimicking that of an elderly individual, and there is failure to thrive. [22], [23] Cantu syndrome Cantu syndrome is a rare hypertrichotic syndrome with an AD pattern of inheritance. [24], [25] Clinically apart from hypertrichosis [ijtrichology.com]

  One case reported by Murayama et al. [ 20 ] had failure to thrive, had seizures and exhibited chronic progressive rigidity, dystonia and spasticity. She was initially thought to have cerebral palsy. [ped-rheum.biomedcentral.com]

  […] to thrive-microcephaly due to ASXL3 deficiency syndrome Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-progressive postnatal [se-atlas.de]

• Anterior Open Bite

  Anterior open bite may be present as well. [ncbi.nlm.nih.gov]

• Cardiomegaly

  Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome SP Robertson, E Kirk, F Bernier… - American journal of …, 1999 - Wiley Online Library Abstract Cantú syndrome ( hypertrichosis, osteochondrodysplasia, cardiomegaly) is [archive.fo]

  Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. Am J Med Genet. 1999 Aug 6;85(4):395-402. [ghr.nlm.nih.gov]

  Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally. [orpha.net]

• Heterochromia Iridis

  It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding, and additional possible associations include lymphoedema and heterochromia iridis. [en.wikipedia.org]

• Coxa Valga

  Coxa Valga ► [Vertically-oriented femoral neck] Coxa valga is a nonspecific defect occurring in a variety of unrelated disorders, both congenital or acquired. [rrnursingschool.biz]

  Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. [diseaseinfosearch.org]

  valga, enlarged medullar canal, long bones shaped like an ‘Erlenmeyer flasks’ and generalized osteopenia. [springerlink.com]

  Limb radiographs showed Ehrlenmeyer flask-like deformities of the femora and the humeri; the radii and ulnae had similarly broad and undermodeled metaphyses and diaphyses, and bilateral coxa valga was present. [genome.jp]

• Coxa Vara

  Pseudohypoaldosteronism type 2 80 families 2848 < 30 families627 Nance-Horan syndrome 50 families Primary erythermalgia3274 Granulomatous arthritis of childhood 40 families 3222 < 30 families98762 Spinocerebellar ataxia type 12 40 families 33108 Camptodactyly-arthropathy-coxa-vara-pericarditis [fliphtml5.com]

• Short Arm

  The gene is located on short arm of chromosome 12 (12p12). Mutations in another gene (KCNJ8) has also been associated with this disorder. Both genes encode in ATP sensitive potassium (KATP) channel subunits. [en.wikipedia.org]

  The QF-PCR mixes 1 and 2 contained primers specific for the Y chromosome regions such as AMELY, ZFY, and SRY loci on the short arm. [karger.com]

• Hirsutism

  Endocrine evaluation of hirsutism. Int J Womens Dermatol. 2017 Mar. 3 (1 Suppl):S6-S10. [Medline]. [Full Text]. Hafsi W, Badri T. Hirsutism. StatPearls [Internet]. 2018 January. Treasure Island, Fla: [Medline]. [Full Text]. [emedicine.medscape.com]

  Bilateral coxa valga with subluxation of both hips has been described as part of the hirsutism-skeletal dyspla-sia-mental retardation syndrome (OMIM 142625), which presents as marked hirsutism, brachycephaly, abnormal facies, mental retardation, pes cavus [rrnursingschool.biz]

  The macroglossia and hirsutism that can be seen in congenital hypothyroidism may overlap with features of Cantú syndrome. Acromegaly. [ncbi.nlm.nih.gov]

  […] about MARTSOLF SYNDROME Low match ZIMMERMANN-LABAND SYNDROME 1; ZLS1 Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism [mendelian.co]

• Alopecia

  […] syndrome 1 Case 2266 Hypotrichosis-intellectual disability, Lopes type 2 Cases 69735 Hypotrichosis-lymphedema- telangiectasia-renal defect syndrome 4 Cases 254509 Iatrogenic botulism 180 Cases 2268 ICF syndrome 66 Cases 2273 Ichthyosis follicularis-alopecia [azkurs.org]

  […] dystrophy congenital megaconial type, CHST % 96% Ehlers-Danlos syndrome musculocontractural type, CHSY % 92% Temtamy preaxial brachydactyly syndrome, CHUK % 97% Cocoon syndrome, CKAP2L % 100% Filippi syndrome, CLDN % 99% Ichthyosis,leukocyte vacuoles,alopecia [docplayer.net]

  […] disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome [se-atlas.de]

  diabetes mellitus, mental retardation, and extrapyramidal syndrome, see Woodhouse-Sakati syndrome hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, see Woodhouse-Sakati syndrome hypogonadism, diabetes [herenciageneticayenfermedad.blogspot.com]

  Narcolepsy-cataplexy 25209893 Congenital isolated thyroxine-binding globulin 46 93402 Syndactyly type 1 25 deficiency 90291 Systemic sclerosis 25247 Arrhythmogenic right ventricular dysplasia 43.5 95719 Thyroid hemiagenesis 2545360 Ménière disease 42.5 701 Alopecia [fliphtml5.com]

• Long, Curly Eyelashes

  The face was 'coarse' with prominent eyebrows, abundant and curly eyelashes, epicanthal folds, convergent strabismus, hypertelorism, flattened and broad nasal bridge, and long philtrum. [genome.jp]

• Short Neck

  The female patient had a short neck, narrow thorax, and generalized hypertrichosis. [genome.jp]

  […] distal phalanx of finger Short outermost finger bone 0009882 Short hallux Short big toe 0010109 Short neck Decreased length of neck 0000470 Skeletal dysplasia 0002652 Umbilical hernia 0001537 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened [rarediseases.info.nih.gov]

  The facial gestalt included: macrocephaly, thick and bushy eyebrows, epicanthal folds, a broad nasal bridge, a bulbus nose, a long philtrum, thick lips (particularly the lower lip), a short neck, and low-set ears (Fig. 1 A). [karger.com]

  Behavioral abnormality Fever Delayed speech and language development Glossoptosis Abnormality of finger Anemia Abnormality of the neck Nystagmus Wide cranial sutures Aplasia/Hypoplasia of the nipples Redundant neck skin Bilateral microphthalmos Arrhinencephaly [mendelian.co]

• Thick Lips

  […] lower lip vermilion Increased volume of lower lip Plump lower lip Prominent lower lip [ more ] 0000179 Thick upper lip vermilion Full upper lip Increased volume of upper lip Plump upper lip Prominent upper lip Thick upper lip [ more ] 0000215 Widened [rarediseases.info.nih.gov]

  lips; Gingival hypertrophy; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Cardiomegaly; Pericardial effusions; Congenital hypertrophy of left ventricle; Bicuspid aortic valve; [Vascular]; Patent ductus arteriosus CHEST: [External features]; Narrow thorax [genome.jp]

  The facial gestalt included: macrocephaly, thick and bushy eyebrows, epicanthal folds, a broad nasal bridge, a bulbus nose, a long philtrum, thick lips (particularly the lower lip), a short neck, and low-set ears (Fig. 1 A). [karger.com]

• Coarse Face

  However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarse” face, hypertelorism, “nasal contour” or “short stature”, should take into account the ethnicity and developmental stage of the [jle.com]

  Abstract Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. [karger.com]

  […] disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse [se-atlas.de]

• Progressive Macrocephaly

  Macrocephaly, often present at birth, typically persists throughout life. Some individuals who do not have macrocephaly at birth have developed progressive macrocephaly in childhood. [ncbi.nlm.nih.gov]

Therefore, a clinical diagnostic workup to rule out these pathologies is necessary. [dovepress.com]

• Delayed Bone Age

  The radiologic findings were unusual, namely proximal and distal megaepiphyses of long bones and advanced bone age. The female patient had a short neck, narrow thorax, and generalized hypertrichosis. [genome.jp]

  Generalized osteopenia, delayed bone age, and craniosynostosis have also been described. Figure 1 A, B, C. Facial appearance showing hirsutism of the forehead with low frontal hairline and coarse features D, E. [ncbi.nlm.nih.gov]

• Enlarged Sella

  Broad ribs and metaphyseal flaring with enlarged medullary canal were observed in 12 cases. [genome.jp]

Prepare for clinical challenges and save time in addressing them thanks to expert advice on treatment options from international contributors. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a... [evidence.nhs.uk]

After treatment, regular recalls are necessary to evaluate oral hygiene and stability of surgical treatment. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. [ijdr.in]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The prognosis of patients ranges from excellent to extremely poor. [mdpi.com]

In the literature, the prognosis is generally considered to be good. However, in spinal or thoracic involvement, life-threatening complications can occur [ 10 ]. Management of Gorham-Stout syndrome is also a subject of controversy. [ped-rheum.biomedcentral.com]

Etiology Most cases appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported. The documents contained in this web site are presented for information purposes only. [orpha.net]

The etiology and mode of inheritance of Cantú syndrome are unknown. Most cases are sporadic. Microdeletions have been discussed as a possible cause of Cantú syndrome. [doi.org]

Etiology Most cases appear to be sporadic but a few familial cases, with predominantly autosomal dominant inheritance, have been reported. Last updated: 1/19/2010 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

University, Porur, Chennai - 600 116, Tamil Nadu India Source of Support: None, Conflict of Interest: None DOI: 10.4103/0974-7753.160113 Abstract Congenital generalized hypertrichosis terminalis is a rare primary hypertrichotic condition, of unknown etiology [ijtrichology.com]

Summary Epidemiology To date, fewer than 30 cases have been reported. [orpha.net]

Disorder Synonyms PPK Column* ICD-9 Selected Epidemiologic Features Genetic Cause Syndromic Associations Distinguishing features Age of onset (for disorder manifistation) Erythema Transgrediens Other Epidermal Features** Systemic Features*** Relevant [dermatologyadvisor.com]

Relevant External Links for KCNJ8 Genetic Association Database (GAD) KCNJ8 Human Genome Epidemiology (HuGE) Navigator KCNJ8 Atlas of Genetics and Cytogenetics in Oncology and Haematology: KCNJ8 No data available for Genatlas for KCNJ8 Gene cDNA sequence [genecards.org]

Epidemiology To date, fewer than 30 cases have been reported. [rarediseases.info.nih.gov]

Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. [genecards.org]

Studies of such rare diseases could lead to a better understanding of the pathophysiology of ABCC9 -related syndromes. Appropriate genetic counseling and prenatal diagnosis for these patients and their families must also be stressed. [karger.com]

The disease pathophysiology commences with intramedullary and subcortical radiolucent foci resembling patchy osteoporosis. It makes slow, irregular, local progress with a concentric shrinkage of the shafts of the bones. [ped-rheum.biomedcentral.com]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]

Other interventions include arrhythmia management using device therapy and sudden death prevention. Patients who are refractory to medical therapy might benefit from mechanical circulatory support and heart transplantation. [centogene.com]

At least two mutations in the ABCC9 gene have been identified in people with dilated cardiomyopathy, a form of heart disease that enlarges and weakens the cardiac muscle, preventing the heart from pumping blood efficiently. [ghr.nlm.nih.gov]