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]

• Pathologist

  Tissue pathways for urological pathology The target primary users of the tissue pathway are trainee and consultant cellular pathologists. These recommendations will also be of value to trainee/qualified biomedical scientists involved in... [evidence.nhs.uk]

• 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]

• 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]

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

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

  (DO) Synonyms: exact_synonym: Cantu syndrome; Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome; Hypertrichotic osteochondrodysplasia primary_id: MESH:C535572 ; RDO:0000771 alt_id: OMIM:239850 xref: GARD:8585 For additional species annotation [rgd.mcw.edu]

• 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]

• 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]

  […] of the metaphysis Abnormality of the wide portion of a long bone 0000944 Cardiomegaly Enlarged heart Increased heart size [ more ] 0001640 Coarse facial features Coarse facial appearance 0000280 Coxa valga 0002673 Curly eyelashes 0007665 Generalized hirsutism [rarediseases.info.nih.gov]

• 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]

• Broad Nasal Bridge

  Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, prominent mouth with full lips and macroglossia [orpha.net]

  Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips. [diseaseinfosearch.org]

  Cantú syndrome and the related disorders acromegaloid facial appearance (AFA) and hypertrichosis and acromegaloid facial features (HAFF) are characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, [ncbi.nlm.nih.gov]

  In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. [uniprot.org]

  Hypertrichotic osteochondrodysplasia (Cantu syndrome), AD, sporadic, Unidentified, Coarse dysmorphic facies ... prominent forehead, broad nasal bridge, hypertelorism), hypertrichosis, CHD (cardiomegaly ... [archive.fo]

• 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]

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]

  Erlenmeyer flask-like long bones with metaphyseal flaring Narrow obturator foramen Coxa vara Scoliosis Osteopenia Delayed bone age Hypoplastic ischium and pubic bones Erlenmeyer flask-like long bones with metaphyseal flaring Narrow obturator foramen [doi.org]

• Enlarged Sella

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

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

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]

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]

Synonyms hypertrichotic osteochondrodysplasia, cantu type Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

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]

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]

The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate. [books.google.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]

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]