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Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

Short Stature - Valvular Heart Disease - Characteristic Facies Syndrome


Presentation

  • Presents comprehensive coverage of valvular heart disease to provide you with a complete reference and one-stop shop for this specialty in cardiac medicine.[books.google.de]
  • Congenital defects are presented with high-quality illustrations and appropriate imaging modalities. Find all the information you need in one user-friendly resource that integrates anatomy, clinical signs, and therapeutic options.[books.google.com]
  • Moreover, disease presentation varies from as early as late infancy to adulthood.[mayomedicallaboratories.com]
  • What chromosomal disorder(s) can present with delayed or failed sexual maturation? 2. This syndrome presents with a prominent occiput, clenched fists and "rocker bottom feet". What are 2 complications that can cause death in these children? 3.[hawaii.edu]
  • Table II describes possible LSDs that can present as hydrops fetalis.[clinicaladvisor.com]
Short Stature
  • MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies syndrome.[malacards.org]
  • stature Brussels type Short stature locking fingers syndrome Short stature with webbed neck and congenital heart disease syndrome Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Short stature, pituitary and cerebellar[icdlist.com]
  • Common normal variants of short stature are familial short stature, constitutional delay of growth and puberty, and idiopathic short stature.[aafp.org]
  • TY - JOUR T1 - Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death.[wwww.unboundmedicine.com]
  • stature due to endocrine disorder 2016 2017 2018 2019 Billable/Specific Code Applicable To Constitutional short stature Laron-type short stature Type 1 Excludes achondroplastic short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional[icd10data.com]
Pulmonary Valve Stenosis
  • valve stenosis valvular heart disease thick collapsed mitral valve Teeth: crowded dentition Clinical features from OMIM: 126190 Genetic tests related to Disproportionate Short Stature with Ptosis and Valvular Heart Lesions: # Genetic test Affiliating[malacards.org]
  • She had a pulmonary valve stenosis, short stature ( strategy.[raredisorders.imedpub.com]
  • CONCLUSIONS Pulmonary valve stenosis and particularly hypertrophic cardiomyopathy are cardiological findings which may provide the key to identifying the syndrome.[revespcardiol.org]
  • Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (HCM) (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis.[rasopathiesnet.org]
  • Cardiac abnormalities occur in 50% of patients: these include pulmonary valve stenosis, thick and dysplastic pulmonary valves, right heart anomalies and left ventricular cardiomyopathy. Relatively frequent occurrence, 1: 1000.[whonamedit.com]
Physician
  • […] coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse practitioners, and physician[books.google.com]
  • A trained physician, normally a cardiologist, can recognize patterns of electrical conduction. With this syndrome, the extra pathway will show a pattern different from those of normal conduction.[medical-dictionary.thefreedictionary.com]
  • Darnall Army Medical Center, Fort Hood, Texas Am Fam Physician. 2015 Jul 1;92(1):43-50. Author disclosure: No relevant financial affiliations.[aafp.org]
  • In other words, it is made when a physician feels that a patient has enough of the features to warrant the label.[en.wikipedia.org]
Surgical Procedure
  • Presents detailed illustrations and images in full color to better showcase valve anatomy and dysfunction, as well as important techniques and surgical procedures.[books.google.de]
  • Ophthalmologic ... developmental evaluation ... cardiovascular system requires lifelong monitoring ... complications of anesthesia in WS, pediatric anesthesia consultation should be considered for surgical procedures in children ... blood pressure ...[ibis-birthdefects.org]
  • The patient with known bicuspid aortic valve requires antibiotic prophylaxis for invasive dental or noncardiac surgical procedures.[chd-uk.co.uk]
Collapse
  • […] morphology 33 HP:0001654 Symptoms via clinical synopsis from OMIM: 58 Limbs: clinodactyly disproportionately short legs small hands Growth: short stature Mouth: high-arched palate Eyes: ptosis Cardiac: pulmonary valve stenosis valvular heart disease thick collapsed[malacards.org]
Pulmonary Disorder
  • Offers a complete overview including basic cardiopulmonary anatomy and physiology, the pathophysiology of commonly encountered cardiac and pulmonary disorders, diagnostic tests and procedures, therapeutic interventions, pharmacology, physical therapy[books.google.com]
Pneumonia
  • […] of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental retardation, dysostosis multiplex, corneal clouding, and death before the age of 10 years because of pneumonia[icd9data.com]
Pleural Effusion
  • Note pleural effusion. 1: Right lung; 2: Left lung; 3: Pleural effusion; 4: Heart. (B) Anteroposterior chest radiography during neonatal period. Note bilateral pleural effusion, larger in the right side.[raredisorders.imedpub.com]
Regurgitation
  • Features new chapters-Genetic, molecular and cellular mechanisms of valvular disease; Bicuspid aortic valve disease; and Ischemic mitral regurgitation-for the latest in cutting-edge research and clinical data.[books.google.de]
  • The patient also had anterior mitral leaflet prolapse with mild mitral regurgitation which also has been rarely reported to occur.[heartindia.net]
  • Cutis laxa Mitral regurgitation Pes planus Laryngomalacia Pulmonary arterial hypertension Hypertriglyceridemia Abnormality of the ribs Tachycardia Bilateral cryptorchidism Dyspnea Diabetes mellitus Disproportionate tall stature Joint laxity Lipoatrophy[mendelian.co]
  • Aortic valve leakage (called aortic regurgitation or aortic insufficiency) is less common during early childhood but can also develop over time.[chd-uk.co.uk]
  • ., long and narrow face , big ears , hypermobile joints Beyond average height and head circumference Mitral valve prolapse : can lead to mitral regurgitation Hyperactivity Focal seizures (10–20%): e.g., benign childhood epilepsy with centrotemporal spikes[amboss.com]
High Arched Palate
  • […] limbs 33 HP:0006385 19 radial deviation of finger 33 HP:0009466 20 abnormal heart valve morphology 33 HP:0001654 Symptoms via clinical synopsis from OMIM: 58 Limbs: clinodactyly disproportionately short legs small hands Growth: short stature Mouth: high-arched[malacards.org]
  • palate, and a small mandible.[wwww.unboundmedicine.com]
  • Physical examination was remarkable for high arched palate, mild thyromegaly, grade I/VI systolic ejection murmur over right upper sternal border, multiple nevi, breasts Tanner stage II, and pubic hair Tanner stage IV. Bone age was 15 years.[cmecorner.com]
  • arched palate Misalignment of the teeth Micrognathia Short neck with webbing Low hairline on the neck Widely spaced nipples Pectus excavatum or pectus carinatum (up to 90% have both, usually pectus carinatum superiorly and pectus excavatum inferiorly[pedclerk.bsd.uchicago.edu]
  • arched palate, bifid uvula Absent, hypoplastic, or abnormally located thymus Hypocalcemia Nasal regurgitation of feeds Feeding disorders/failure to thrive/gastroesophageal reflux Facial dysmorphia (especially abnormal ear or nose) Toddler/school-aged[circ.ahajournals.org]
Heart Disease
  • Valvular Heart Disease is now an even better source for all your questions on dysfunctions or abnormalities of the heart's four valves.[books.google.de]
  • Diagnosis and Management of Adult Congenital Heart Disease, by Drs. Gatzoulis, Webb, and Daubeney, is a practical, one-stop resource designed to help you manage the unique challenges of treating long-term adult survivors of congenital heart disease.[books.google.com]
  • MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies syndrome.[malacards.org]
  • Keywords: Absent external ears, Congenital heart disease, Facial paralysis How to cite this article: Patel N, Thanvi R, Prajapati B, Sathvara P. Bilateral anotia, congenital heart disease, and facial paralysis: Unusual triad of pearl syndrome.[indianjotol.org]
  • […] dysmorphic features have a significantly higher prevalence of congenital heart disease,173 and 45X Turner Figure 7-9 Typical facial appearance of a 20-month-old girl (A) and a 24-month-old boy (B and C) with nonfamilial supravalvular aortic stenosis[mitchmedical.us]
Mitral Valve Prolapse
  • valve prolapse 60 33 hallmark (90%) Very frequent (99-80%) HP:0001634 7 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209 8 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055 9 dental crowding 60 33[malacards.org]
  • TY - JOUR T1 - Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death.[wwww.unboundmedicine.com]
  • Keywords: Branch pulmonary artery stenosis, mitral valve prolapse, noonan syndrome How to cite this article: Kadiyala M, Thangavelu V, Radhakrishnan K.[heartindia.net]
  • Mitral valve prolapse syndrome Mitral valve prolapse (MVP) syndrome refers to cases of idiopathic MVP in which other cardiac and connective tissue disorders have been ruled out.[nature.com]
  • ., long and narrow face , big ears , hypermobile joints Beyond average height and head circumference Mitral valve prolapse : can lead to mitral regurgitation Hyperactivity Focal seizures (10–20%): e.g., benign childhood epilepsy with centrotemporal spikes[amboss.com]
Ptosis
  • […] data for Disproportionate Short Stature with Ptosis and Valvular Heart Lesions.[malacards.org]
  • Although the ophthalmoplegia may be less severe than the ptosis at presentation, it usually becomes progressively worse over a period of years.[eyewiki.aao.org]
  • Anterior pituitary hormone deficiency BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Blepharophimosis, ptosis[icdlist.com]
  • Children with CFC syndrome also have relative macrocephaly, hypertelorism and ptosis but tend to have coarser facial features.[heartindia.net]
  • These individuals had small stature, hypertelorism, mild mental retardation and often ptosis and skeletal abnormalities, as well as undescended testes in the males. Pulmonary stenosis was the most frequent cardiac defect.[whonamedit.com]
Skeletal Dysplasia
  • dysplasia Neck webbing Noonan syndrome-like disorder with loose anagen hair Noonan's syndrome Oliver McFarlane syndrome Osteodysplastic primordial dwarfism Osteodysplastic primordial dwarfism, type 1 Prader-Willi syndrome Pseudohermaphroditism Robin[icdlist.com]
  • Seckel syndrome panel ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP Skeletal dysplasia ciliopathy panel DYNC2H1, EVC, EVC2, IFT43, IFT80,... Skeletal dysplasia extended panel ALPL, ARSE, COL10A1, COL11A1, COL11A2,...[centogene.com]
  • Learn more Other less relevant matches: Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2 Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad[mendelian.co]
  • Clinical features and severity of symptoms of MPS IVA are widely variable, but may include skeletal dysplasia, short stature, dental anomalies, corneal clouding, respiratory insufficiency, and cardiac disease. Intelligence is usually normal.[mayomedicallaboratories.com]
  • Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children”. Horm Res. vol. 60. 2003. pp. 65-70. (GH therapy in skeletal dysplasias.) Kanaka-Gantenbein, C..[endocrinologyadvisor.com]
Small Hand
  • 5 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692 6 mitral valve prolapse 60 33 hallmark (90%) Very frequent (99-80%) HP:0001634 7 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209 8 small[malacards.org]
  • hand Short palpebral fissure Camptodactyly Conductive hearing impairment Unilateral cryptorchidism Avascular necrosis of the capital femoral epiphysis Curly eyelashes Osteopenia Protruding ear Abnormality of the nervous system Smooth philtrum Short palm[mendelian.co]
Short Hands
  • hand tubular bones 78 (40) Brachy-clinodactylous 5 th finger 62 (45) Abnormal spine curvature 58 (31) Short femoral necks/hip dysplasia 50 (26) Sternum abnormalities 29 (44) Wormian bones in skull 19 (21) Cognitive deficits/psychomotor delay 91 (45)[ojrd.biomedcentral.com]
  • He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped ears, redundant nuchal skin and short hands with single palm creases.[hawaii.edu]
Wide Neck
  • Older children may present with protrusion of de ocular globes, ptosis, lip widening with deep nasolabial furrow, wide neck, pronounce trapezius. ** Typical ECG findings : left axis deviation, low voltage R wave in precordial leads (low R/S), broad QRS[raredisorders.imedpub.com]
Cesarean Section
  • Thoracoamniotic shunt placement was attempted but finally she was delivered by an emergency cesarean section at 33 weeks gestation secondary to placental abruption as a complication during intrauterine pleural drainage.[raredisorders.imedpub.com]
Stroke
  • Take advantage of a wealth of images that capture the clinical manifestations and findings associated with Kawasaki disease, lupus, lymphoma, stroke, and many other disorders seen in children.[books.google.com]
  • Re: Growth hormone treatment for childhood short stature and risk of stroke in early adulthood (Poidvin, et al.”. Neurology. vol. 83. 2014. pp. 780-6. (GH and risk of stroke.)[endocrinologyadvisor.com]
  • Cardiac Cardiac dysfunction due to progressive arrhythmia can lead to stroke or death and evaluation by a cardiologist at the time of diagnosis and at regular intervals thereafter is suggested.[eyewiki.aao.org]
  • William's Syndrome The National Institute of Neurological Disorders and Stroke (NINDS), February 14, 2007 [for Professionals mainly] Williams syndrome is a rare, congenital (present at birth) disorder characterized by physical and developmental problems[ibis-birthdefects.org]
Clumsiness
  • Peripheral neuropathy can present as initial symptoms of gait impairment; stumbling, clumsiness can resemble ataxia. Signs of distal muscle atrophy in upper and lower extremities can be present.[clinicaladvisor.com]

Workup

  • A diagnostic workup for individuals with suspected MPS should begin with MPSSC / Mucopolysaccharides (MPS) Screen, Urine, which includes both the quantitative analysis of total GAGs and qualitative liquid chromatography-tandem mass spectrometry (LC-MS[mayomedicallaboratories.com]
  • Although most children with short or tall stature do not have a pathologic condition, extremes of height, especially beyond three standard deviations, require further workup.[aafp.org]
  • Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene.[chginc.org]
Delayed Bone Age
  • Typically, children with this condition have a delayed bone age with a preserved or increased weight for age.[aafp.org]
  • bone age, and neuropsychological changes. 21 Cushing syndrome is very rare in children and results from prolonged exposure to excess glucocorticoids. 22 Causes include adrenal tumors, pituitary tumors, and ectopic ATCH-producing tumors.[cmecorner.com]
  • bone age 79 (28) Short hand tubular bones 78 (40) Brachy-clinodactylous 5 th finger 62 (45) Abnormal spine curvature 58 (31) Short femoral necks/hip dysplasia 50 (26) Sternum abnormalities 29 (44) Wormian bones in skull 19 (21) Cognitive deficits/psychomotor[ojrd.biomedcentral.com]
  • Constitutional delay of growth is suggested by deceleration of length/height in the first 3 years of life, a normal or near-normal height velocity during childhood (2 inches/year), significantly delayed bone age and pubertal development, and adult height[endocrinologyadvisor.com]
Left Axis Deviation
  • Her ECG registration showed left axis deviation and small R waves in left precordial leads. Mutations in the MAP2K2 gene are so far only described in patients with CFC syndrome [Rodriguez-Viciana and Rauen, 2008; Koudava et al., 2009].[karger.com]
  • . ** Typical ECG findings : left axis deviation, low voltage R wave in precordial leads (low R/S), broad QRS, pathologic Q waves ( 25% the amplitude of the R wave and more than 0.04 ms duration). 1A 1 major criteria or 2 minor criteria 1B 2 major criteria[raredisorders.imedpub.com]
Karyotype Abnormal
  • The phenotype bears similarities to that of turner syndrome that occurs only in females and has its basis in a 45, x karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,xx and 46,xy).[icd10data.com]
Pleural Effusion
  • Note pleural effusion. 1: Right lung; 2: Left lung; 3: Pleural effusion; 4: Heart. (B) Anteroposterior chest radiography during neonatal period. Note bilateral pleural effusion, larger in the right side.[raredisorders.imedpub.com]

Treatment

  • Lists the latest drugs used for the treatment of cardiopulmonary disorders. Includes information on laboratory medicine and pediatrics to help you apply cardiopulmonary principles to practice.[books.google.com]
  • In the third edition, Catherine Otto is joined by Robert Bonow and a team of expert contributors to bring you the latest developments in imaging and treatment.[books.google.de]
  • These can be divided into medication treatments and non-medication treatments. Medication treatments The most important medication treatments are: Growth hormone This is sometimes started as early as 12-24 months of age.[patient.info]
  • If you are able to confirm that the patient has a lysosomal storage disease, what treatment should be initiated? The treatment of LSDs can be divided in supportive and specific treatment categories.[clinicaladvisor.com]
  • But with the right treatment, they can stay healthy and do well in school. Causes Babies with Williams syndrome are born without certain genes. The symptoms they have depend on the genes they're missing.[webmd.com]

Prognosis

  • ., benign childhood epilepsy with centrotemporal spikes , simple or complex partial seizures Diagnosis Treatment : symptomatic Prognosis : Life expectancy depends on the level of intellectual disability .[amboss.com]
  • Prognosis The prognosis for individuals with Williams syndrome is highly dependent on the medical complications of a particular individual.[encyclopedia.com]
  • Conduction abnormalities have been successfully managed with pacemaker implantation. 6 In cases of severe cardiac dysfunction, heart transplant is an option. 28 Prognosis The visual prognosis for Kearns-Sayre syndrome is relatively good.[eyewiki.aao.org]
  • Suspected based on symptoms, confirmed with genetic testing [4] [2] Differential diagnosis Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1 [2] [3] Treatment Based on the symptoms [3] Medication Growth hormone [3] Prognosis[en.wikipedia.org]
  • Prognosis Most patients with this syndrome can lead normal lives, even with episodes of tachycardia. In many cases, the syndrome is secondary to the underlying congenital heart defect.[medical-dictionary.thefreedictionary.com]

Etiology

  • Fragile X X-tra large big ears, testes , face References: [1] [2] [3] [4] [5] [6] Prader-Willi syndrome and Angelman syndrome Definition and etiology Genetic syndromes caused by microdeletion (at 15q11-q13 ) in combination with genomic imprinting The[amboss.com]
  • The etiology is an extra X chromosome. The most common chromosomal pattern is 47,XXY, but other variants can occur including 48,XXYY, 48,XXXY, and 49,XXXXY.[hawaii.edu]
  • Williams syndrome: an historical perspective of its evolution, natural history, and etiology. Am J Med Genet Suppl. 1990;6:89-96. Holmstrom G, et al. The iris in Williams syndrome. Arch Dis Child. 1990;65:987-989. Giddins NG, et al.[rarediseases.org]
  • Etiology The majority of individuals with phenotypic features of DiGeorge syndrome have a mirror-deletion on chromosome 22q112, which is typically detected by FISH testing.[dermatologyadvisor.com]
  • Idiopathic short stature is defined as a height less than two standard deviations below the mean for age without a known etiology.[aafp.org]

Epidemiology

  • Martin-Bell syndrome (fragile X syndrome) Definition : X-linked dominant disease caused by a change in the expression of the FMR1 gene ( fragile X mental retardation 1 gene ) inability to express gene product due to CGG trinucleotide repeat expansion Epidemiology[amboss.com]
  • Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res. 2008 Apr;18(2):89–110. Callaway SR, Lesher JL. Keratosis pilaris atrophicans: case series and review. PediatrDermatol. 2004 Feb;21(1):14–7.[pedclerk.bsd.uchicago.edu]
  • Abnormal hair implantation 58 (45) Minor Features Cutaneous syndactyly, toes II/III 46 (45) Webbed/short neck 42 (38) Cryptorchidism 28 (29) Hearing loss 23 (43) Palatal defects (including uvula) 18 (38) Strabismus 18 (45) Congenital heart defects 9 (45) Epidemiology[ojrd.biomedcentral.com]
  • (Another epidemiology study in an European country confirms the prevalence observed in other countries.) Mechtler, TP, Stary, S, Metz, TF, De Jesús, VR, Greber-Platzer, S, Pollak, A.[clinicaladvisor.com]
  • Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010).[centogene.com]
Sex distribution
Age distribution

Pathophysiology

  • It integrates key concepts of pathophysiology, clinical manifestations, diagnostic tests and laboratory information and findings with clinically important medical and surgical interventions and pharmacologic therapies — then applies the material to physical[books.google.com]
  • Pathophysiology The critical chromosomal region involves a large portion of the long-arm of chromosome 22. The region contains 30-40 genes, all of which appear to have regulatory functions.[dermatologyadvisor.com]
  • Retinal evaluation reveals disruption and atrophy of retinal photoreceptors as well as aberrant pigment distribution in all layers of the retina. 4, 5 Spongiform degeneration of the brain has been reported in multiple patients at autopsy. 6 Pathophysiology[eyewiki.aao.org]
  • Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al.[nature.com]
  • Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY.[physio-pedia.com]

Prevention

  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • SBE can usually be prevented by taking an antibiotic before these procedures How is the problem diagnosed? Symptoms: Bicuspid aortic valve without aortic stenosis does not cause any symptoms.[chd-uk.co.uk]
  • A dental examination should be performed early, and extensive preventive dental care is important.[socialstyrelsen.se]
  • Grummer-Strawn LM, Reinold C, Krebs NF; Centers for Disease Control and Prevention.[aafp.org]

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