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]

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]

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]

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]

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]

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]

Prolapse Prolapse literally means to fall out of place, from the Latin prolabi meaning to fall out. [wikivisually.com]

Dahlberg-Borer-Newcomer syndrome Disease definition Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse [orpha.net]

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]

When the left ventricle contracts, the valve's leaflets bulge (prolapse) upward or back into the atrium.) and short end bones in fingers and toes. Treatment: Treatment focuses on the symptoms/complications. [lymphedemapeople.com]

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]

[…] 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]

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]

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]

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]

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]

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]

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]

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]