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Hypertrichotic Osteochondrodysplasia

Dwarfism Cerebral Atrophy Keratosis Follicularis Syndrome


Presentation

  • 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]
  • Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia.[diseaseinfosearch.org]
  • Two sibs and two other unrelated patients presented a distinct previously undescribed syndrome consisting of generalized congenital hypertrichosis , macrosomy at birth, narrow thorax, cardiomegaly, wide ribs, platyspondyly, hypo- plastic ischiopubic branches[archive.fo]
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]
Loss of Hair
  • […] of hair 【脱毛症】*alopecia (弾) 【弾性線維症】*elastosis 【弾発指】*trigger finger ( バネ指) (談) 【談話困難症】*dyslogia (デ) 【デング出血熱】*Dengue hemorrhagic fever (略 DHF) (電) 【電撃痛】*shooting pain *lancinating pain (伝) 【伝染性下痢】*epidemic diarrhea ( 流行性下痢) 【伝染性結膜炎】*infectious conjunctivitis[medo.jp]
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]
  • […] non-traumatic avascular necrosis Semilobar holoprosencephaly Septopreoptic holoprosencephaly Severe X-linked intellectual disability, Gustavson type Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe feeding difficulties-failure[se-atlas.de]
Hypertrophic Pyloric Stenosis
  • Hennekam, Infantile hypertrophic pyloric stenosis—genetics and syndromes, Nature Reviews Gastroenterology & Hepatology, 10.1038/nrgastro.2012.133, 9, 11, (646-660), (2012) ., (2012).[doi.org]
Macroglossia
  • 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]
  • […] 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, wide mouth with full lips and macroglossia[ncbi.nlm.nih.gov]
Anterior Open Bite
  • Anterior open bite may be present as well.[ncbi.nlm.nih.gov]
  • open bite Hair Congenital generalized hirsutism Thick scalp hair Thick and/or curly eyelashes Excessive hair growth on forehead, face, back, and limbs Cardiovascular Cardiomegaly Concentric hypertrophy of the ventricles Normal ventricular contractility[doi.org]
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)[archive.fo]
  • Cardiomegaly is found in the majority of patients and pericardial effusions have been present occasionally.[orpha.net]
  • (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]
  • Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. Am J Med Genet. 1999 Aug 6;85(4):395-402.[ghr.nlm.nih.gov]
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
  • 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]
  • 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]
  • 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
  • vara Scoliosis Osteopenia Delayed bone age Hypoplastic ischium and pubic bones Erlenmeyer flask-like long bones with metaphyseal flaring Narrow obturator foramen Coxa vara Scoliosis Osteopenia Delayed bone age Skin and joints Loose and/or wrinkled skin[doi.org]
  • 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]
Increased Muscle Mass
  • Yet, despite the enlargement of the heart with increased muscle mass, cardiac function is typically normal, with normal ventricular contractility on imaging studies. 112 Cardiac muscle biopsy in 1 patient showed mild myofibrillar disorganization but normal[doi.org]
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]
  • The macroglossia and hirsutism that can be seen in congenital hypothyroidism may overlap with features of Cantú syndrome. Acromegaly.[ncbi.nlm.nih.gov]
  • 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]
  • […] 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
  • Clinical Synopsis: INHERITANCE: Autosomal dominant GROWTH: [Weight]; Birthweight 90th percentile HEAD AND NECK: [Head]; Macrocephaly; [Face]; Coarse facies; Prominent forehead; Long philtrum; [Eyes]; Epicanthal folds; Long, curly eyelashes; [Nose]; Anteverted[genome.jp]
Compulsive Disorder
  • Intellect is typically normal; behavioral problems can include anxiety, mood swings, obsessive-compulsive disorder, and tics.[ncbi.nlm.nih.gov]
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]
  • neck Decreased length of neck 0000470 Skeletal dysplasia 0002652 Umbilical hernia 0001537 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width[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]
  • neck Low posterior hairline Large for gestational age Pyloric stenosis Growth delay Accelerated skeletal maturation Motor delay Hypertrichosis Thick lower lip vermilion Delayed skeletal maturation Optic atrophy Atrial septal defect Umbilical hernia Talipes[mendelian.co]
Thick Lips
  • lips [ more ] 0012471 Wide mouth Broad mouth Large mouth [ more ] 0000154 30%-79% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Broad hallux phalanx Broad bone of[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 “coarseface, 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]
  • face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus[se-atlas.de]
Behavior Problem
  • Intellect is typically normal; behavioral problems can include anxiety, mood swings, obsessive-compulsive disorder, and tics.[ncbi.nlm.nih.gov]
Progressive Macrocephaly
  • Some individuals who do not have macrocephaly at birth have developed progressive macrocephaly in childhood. Generalized edema at birth (observed on occasion) usually resolves spontaneously.[ncbi.nlm.nih.gov]

Workup

  • Therefore, a clinical diagnostic workup to rule out these pathologies is necessary.[dovepress.com]
Delayed Bone Age
  • bone age; [Skull]; Widened posterior fossa; Enlarged sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty); [Pelvis]; Hypoplastic ishchiopubic rami; Coxa valga; Narrow obturator foramen[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]
  • bone age Hypoplastic ischium and pubic bones Erlenmeyer flask-like long bones with metaphyseal flaring Narrow obturator foramen Coxa vara Scoliosis Osteopenia Delayed bone age Skin and joints Loose and/or wrinkled skin, especially in neonates Deep palmar[doi.org]
Enlarged Sella
  • sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty); [Pelvis]; Hypoplastic ishchiopubic rami; Coxa valga; Narrow obturator foramen; [Limbs]; Widened metaphyses; Erlenmeyer flask femora[genome.jp]

Treatment

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

Prognosis

  • 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

  • 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]

Epidemiology

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

Pathophysiology

  • 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]

Prevention

  • 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]
  • 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]

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