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Lymphedema Hypoparathyroidism Syndrome

Dahlberg-Borer-Newcomer syndrome


Presentation

  • Lymphedema-hypoparathyroidism syndrome syndrome Prevalence: Inheritance: Autosomal recessive or X-linked recessive Age of onset: Childhood ICD-10: Q87.8 OMIM: 247410 UMLS: C1855477 MeSH: C535769 GARD: 237 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • With a central motif of the biologic dichotomy of vascular tumors and vascular malformations, this book is organized into chapters which address clinical presentation, diagnostic imaging, molecular genetics, pathogenesis, histopathology, and management[books.google.com]
  • Compelling questions are highlighted and future directions presented.[alan.chu.jp]
  • The present study aimed to evaluate the influence of dose and plasma concentration of thioridazine and CYP2D6 enzyme status on the QTc interval in psychiatric patients.[52m.principality.us]
Short Stature
  • stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322 4 nephropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000112 5 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230 6 hypohidrosis 60 33 hallmark (90%) Very[malacards.org]
  • stature Decreased body height Small stature [ more ] 0004322 Telecanthus Corners of eye widely separated 0000506 Thickened skin Thick skin 0001072 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge[rarediseases.info.nih.gov]
  • Stature Databases Malonyl CoA Databases Malonyl CoA Decarboxylase Deficiency Databases 1633 1634 1635 1636 1637 1638 1639 1640 1641 1642[vadlo.com]
  • stature Pica Microcephaly SOURCES: OMIM ORPHANET More info about INCONTINENTIA PIGMENTI; IP Low match ADAMS-OLIVER SYNDROME 2; AOS2 Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis[mendelian.co]
Nail Abnormality
  • Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.[orpha.net]
  • Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. Last updated: 10/21/2013 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.[rarediseases.info.nih.gov]
Short Finger
  • Showing of 23 80%-99% of people have these symptoms Anonychia Absent nails Aplastic nails [ more ] 0001798 Brachydactyly Short fingers or toes 0001156 Generalized hirsutism Excessive hairiness over body 0002230 Hypocalcemia Low blood calcium levels 0002901[rarediseases.info.nih.gov]
  • finger Bifid nasal tip Dermal atrophy Widow's peak Cerebral palsy Bifid nose Clonus Colon cancer Skeletal dysplasia Ectropion Tubulointerstitial nephritis Varicose veins Corneal erosion Arachnoid cyst Glomerulopathy Atrioventricular block Abnormality[mendelian.co]
Pathologist
  • Vascular Anomalies: Hemangiomas and Malformations is a comprehensive and interdisciplinary textbook ideal for dermatologists, interventional radiologists, surgical specialists, ophthalmologists, pathologists, geneticists, pediatricians, hematologic-oncologists[books.google.com]
Respiratory Disorders
  • Smoking, connective tissue disorders, upper respiratory disorders‚, minor prolapse can be treated with exercises to strengthen the pelvic floor muscles, more serious prolapse, e. g. complete procidentia, requires pessary use or reconstructive surgical[wikivisually.com]
Mitral Valve Prolapse
  • valve prolapse and brachytelephalangy.[orpha.net]
  • valve prolapse 60 33 hallmark (90%) Very frequent (99-80%) HP:0001634 10 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506 11 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156 12 anonychia 60 33 hallmark (90%) Very[malacards.org]
Ptosis
  • 33 HP:0000508 19 restrictive ventilatory defect 33 HP:0002091 20 pulmonary lymphangiectasia 33 HP:0006521 21 hypertrichosis 33 HP:0000998 22 increased carrying angle 33 HP:0003102 Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: ptosis[malacards.org]
  • […] hypocalcemia (Very frequent sign) hypothyroidy (Very frequent sign) increased body hair (Very frequent sign) long qt/preexcitation/abnormal ecg (Very frequent sign) lymphoedema/oedema (Very frequent sign) mitral valve prolapse/incompetence (Very frequent sign) ptosis[lymphedemapeople.com]
  • […] symptoms Renal insufficiency Renal failure Renal failure in adulthood [ more ] 0000083 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Hypertrichosis 0000998 Increased carrying angle 0003102 Ptosis[rarediseases.info.nih.gov]
  • Other complications may include cardiac defects, varicose veins, ptosis, cleft palate, spinal extradural cysts, and photophobia ( Fang et al., 2000 ; Brice et al., 2002 ).[mendelian.co]
  • Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III; ACS3) (ACS III) (Chotzen syndrome) (Acrocephaly, skull asymmetry and mild syndactyly) (Saethre-Chotzen syndrome with eyelid anomalies, included) (Blepharophimosis, epicanthus inversus, and ptosis[becomerich.lab.u-ryukyu.ac.jp]
Brachydactyly
  • HP:0000998 22 increased carrying angle 33 HP:0003102 Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: ptosis telecanthus cataracts Genitourinary Kidneys: nephropathy renal failure Endocrine Features: hypoparathyroidism Skeletal Hands: brachydactyly[malacards.org]
  • E : Dahlberg borer newcomer syndrome Synonym(s) Lymphedema hypoparathyroidism syndrome Clinical Signs abnormal respiratory system (Very frequent sign) absent/small fingernails (Very frequent sign) autosomal recessive inheritance (Very frequent sign) brachydactyly[lymphedemapeople.com]
  • Showing of 23 80%-99% of people have these symptoms Anonychia Absent nails Aplastic nails [ more ] 0001798 Brachydactyly Short fingers or toes 0001156 Generalized hirsutism Excessive hairiness over body 0002230 Hypocalcemia Low blood calcium levels 0002901[rarediseases.info.nih.gov]
  • Brachydactyly - nystagmus - cerebellar ataxia Brain tumor ataxia Bronchial endocrine tumor Brooke-Spiegler syndrome Bruck syndrome Brugada syndrome Bullous systemic lupus erythematosus Burning mouth syndrome C3 glomerulonephritis CACH syndrome CACNA1A[sanfordresearch.org]
  • Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Melanoma and Wide nose, related diseases and genetic alterations Macrocephaly and Round face, related diseases and genetic alterations Brachydactyly[mendelian.co]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Telecanthus Corners of eye widely separated 0000506 Thickened skin Thick skin 0001072 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased[rarediseases.info.nih.gov]
Hirsutism
  • (99-80%) HP:0000821 2 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431 3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322 4 nephropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000112 5 generalized hirsutism[malacards.org]
  • Showing of 23 80%-99% of people have these symptoms Anonychia Absent nails Aplastic nails [ more ] 0001798 Brachydactyly Short fingers or toes 0001156 Generalized hirsutism Excessive hairiness over body 0002230 Hypocalcemia Low blood calcium levels 0002901[rarediseases.info.nih.gov]
  • […] a) hirsutism b) hypotension c) hypoglycemia d) pallor 1) A - An increased production of androgens that accompanies a rise in cortisol levels with Cushing's syndrome produces hirsutism and acne in women.[quizlet.com]
  • […] alcoholic) Hepatitis, autoimmune Hepatocellular carcinoma Hepatopulmonary syndrome Hepatorenal syndrome Herpangina Herpes simplex Herpes zoster High Altitude sickness Hiatal hernia Hidradenitis suppurativa Hip fracture (previously Femoral Neck Fracture) Hirsutism[elsevier.com]
Decreased Sweating
  • sweating (Very frequent sign) hypocalcemia (Very frequent sign) hypothyroidy (Very frequent sign) increased body hair (Very frequent sign) long qt/preexcitation/abnormal ecg (Very frequent sign) lymphoedema/oedema (Very frequent sign) mitral valve prolapse[lymphedemapeople.com]
  • sweating Sweating, decreased [ more ] 0000966 Hypoparathyroidism Decreased parathyroid hormone secretion 0000829 Hypothyroidism Underactive thyroid 0000821 Lymphedema Swelling caused by excess lymph fluid under skin 0001004 Mitral valve prolapse 0001634[rarediseases.info.nih.gov]
Increased Body Hair
  • body hair (Very frequent sign) long qt/preexcitation/abnormal ecg (Very frequent sign) lymphoedema/oedema (Very frequent sign) mitral valve prolapse/incompetence (Very frequent sign) ptosis (Very frequent sign) renal disease (Very frequent sign) renal[lymphedemapeople.com]
Absent Nails
  • Showing of 23 80%-99% of people have these symptoms Anonychia Absent nails Aplastic nails [ more ] 0001798 Brachydactyly Short fingers or toes 0001156 Generalized hirsutism Excessive hairiness over body 0002230 Hypocalcemia Low blood calcium levels 0002901[rarediseases.info.nih.gov]
Aggressive Behavior
  • behavior Thin upper lip vermilion Hyperactivity Macrotia Reduced visual acuity Psychosis Memory impairment Rigidity Polyneuropathy Mental deterioration Severe short stature Adult onset Chorioretinal lacunae Sensory neuropathy Retinal thinning Prominent[mendelian.co]
Broad Nasal Bridge
  • nasal bridge Skin Nails Hair Hair: hypertrichosis (face and forehead) Growth Height: short stature Skin Nails Hair Skin: lymphedema Cardiovascular Heart: mitral valve prolapse Respiratory Lung: pulmonary lymphangiectasia restrictive lung disease Skeletal[malacards.org]
  • Both have a broad nasal bridge and lateral displacement of the inner canthi. Pulmonary lymphangiectasia (see 265300 ) was suspected on the basis of radiologic findings.[lymphedemapeople.com]
  • nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [[rarediseases.info.nih.gov]
Pierre Robin Syndrome
  • Robin syndrome Giant axonal neuropathy Glaucoma - sleep apnea Gliadin/Gluten ataxia Glossopharyngeal neuralgia Glucose transport disorder Glutaryl-CoA dehydrogenase deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease[sanfordresearch.org]
Renal Insufficiency
  • insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083 18 ptosis 33 HP:0000508 19 restrictive ventilatory defect 33 HP:0002091 20 pulmonary lymphangiectasia 33 HP:0006521 21 hypertrichosis 33 HP:0000998 22 increased carrying angle 33 HP:[malacards.org]
  • N J Shaw, D Haigh, G T Lealmann, G Karbani, J T Brocklebank and M J Dillon, Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay., Archives of Disease in Childhood, 10.1136/adc.66.10.1191, 66, 10, (1191-1194), (1991)[doi.org]
  • insufficiency Renal failure Renal failure in adulthood [ more ] 0000083 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Hypertrichosis 0000998 Increased carrying angle 0003102 Ptosis Drooping[rarediseases.info.nih.gov]
  • Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay. Arch Dis Child 1991 ;66: 1191 –4. 29. Edwards BD, Patton MA, Dilly SA, Eastwood JB..[nejm.org]
  • These nail changes are thought to be an occasional but very specific finding of chronic renal failure, and it is estimated that up to 40% of patients with renal insufficiency have the nail changes during the course of their disease.[bobbybukamd.com]
Kidney Failure
  • Dahlberg Borer Newcomer syndrome is a rare autosomal X-linked recessive genetic condition characterized by a prolapse of the bicuspid valve, progressive kidney failure, congenital lymphedema, hypoparathyroidism, and very short end bones of fingers.[en.wikipedia.org]
  • Causes include kidney failure, pseudohypoparathyroidism, hypoparathyroidism, diabetic ketoacidosis, tumor lysis syndrome, and rhabdomyolysis.... - recessive hypoparathyroidism is a rare, congenital form of hypoparathyroidism.[wordaz.com]
Kidney Failure
  • Dahlberg Borer Newcomer syndrome is a rare autosomal X-linked recessive genetic condition characterized by a prolapse of the bicuspid valve, progressive kidney failure, congenital lymphedema, hypoparathyroidism, and very short end bones of fingers.[en.wikipedia.org]
  • Causes include kidney failure, pseudohypoparathyroidism, hypoparathyroidism, diabetic ketoacidosis, tumor lysis syndrome, and rhabdomyolysis.... - recessive hypoparathyroidism is a rare, congenital form of hypoparathyroidism.[wordaz.com]

Workup

Abnormal ECG
  • ecg (Very frequent sign) lymphoedema/oedema (Very frequent sign) mitral valve prolapse/incompetence (Very frequent sign) ptosis (Very frequent sign) renal disease (Very frequent sign) renal failure (Very frequent sign) short foot/brachydactyly of toes[lymphedemapeople.com]

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]
  • 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]
  • Treatment: Treatment focuses on the symptoms/complications. This would include manual lymphatic drainage for the lymphedema.[lymphedemapeople.com]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]

Prognosis

  • References Complications Recurrent cellulitis Bacteremia Lymphangiosarcoma Sarcoma Protein-losing enteropathy Chylothorax Chylous ascites References Prognosis Long-term prognosis is excellent.[img.medscape.com]
  • Megalymphatics are associated with a greater extent of involvement and a worse prognosis.[clinicalgate.com]
  • The prognosis of primary lymphedema of the lower limbs. Archives of Surgery 1981; 116:1157â1160. 7. Smeltzer DM, Stickler GB, Schirger A. Primary lymphedema in children and adolescents: a follow-up study and review. Pediatrics 1985; 76: 206â218. 8.[myslide.es]
  • BACKGROUND Parathyroid carcinoma (PC) is an uncommon disease that generally is detected postoperatively and traditionally is associated with a poor prognosis.[scholarlibs.org]
  • While the prognosis is dependent on the primary tumor, a study found that the average life expectancy after developing skin metastases was three months.[bobbybukamd.com]

Etiology

  • Synonyms dahlberg syndrome dahlberg-borer-newcomer syndrome lymphedema - hypoparathyroidism syndrome Etiology Please input defination information here. Diagnosis Please input defination information here.[pediascape.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • 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]
  • Classifi- cation, etiology and differential diagnosis. A study of three hundred cases. Archives of Internal Medicine 1934; 54:606â624. 6. Wolfe JHN, Kinmonth JB. The prognosis of primary lymphedema of the lower limbs.[myslide.es]

Epidemiology

  • Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab. 2016 Jun;101:2284-99. Ferre EM, Rose SR, Rosenzweig SD, et al.[rarediseases.org]
  • Epidemiology More common in women; affects all ages Incidence Most common after surgical procedure of the anterior neck (75% of all cases).[unboundmedicine.com]
  • References Epidemiology Frequency United States The primary lymphedemas occur in 1 of 10,000 individuals. Milroy disease is inherited as an autosomal dominant condition associated with variable penetrance.[img.medscape.com]
  • Contributions are divided into three parts: Methodologies with regard to global epidemiology; applications/end users, and future horizons.[alan.chu.jp]
  • We present the clinical and epidemiological features of Mycobacterium fortuitum epidemics involving 19 patients who underwent open-heart surgery. The source of the infection could not be identified.[5r.moult.us]
Sex distribution
Age distribution

Pathophysiology

  • Gain a state-of-the-art understanding of the pathophysiology, diagnosis, and management of arterial disease, venous disease, lymph dysfunction, connective tissue disease, vascular disease, and vascular manifestations of systemic disease.[books.google.com]
  • Stephanie C Hsu and Michael A Levine, Perinatal calcium metabolism: physiology and pathophysiology, Seminars in Neonatology, 9, 1, (23), (2004). Henry T. Lynch, Carolyn A. Deters, David Hogg, Jane F.[doi.org]
  • […] lymphedema acupuncture treatment, lymphedema liposuction treatment, lymphedema compression pump therapy, lymphedema laser treatment, benzopyrone treatment, flavonoids treatment, lymphedema skin conditions, skin function, skin functions, lymphedema sskin pathophysiology[158.69.84.99]

Prevention

  • Learn the best methods for aggressive patient management and disease prevention to ensure minimal risk of further cardiovascular problems. Stay current with ACC/AHA and ECC guidelines and the best ways to implement them in clinical practice.[books.google.com]
  • Updated on: 05/03/17 Preventing Hashimoto’s Thyroiditis[endocrineweb.com]
  • Monthly penicillin G benzathine injections may be required to prevent recurrent cellulitis. References Cefazolin (Ancef) Dosing, Interactions, etc.[img.medscape.com]
  • Vascular malformations are inborn errors of vascular embryogenesis present at birth that should be diagnosed in childhood and, when necessary, treated to prevent later complications.[actasdermo.org]

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