Presentation
She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up. [pure.unipa.it]
Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely. [ncbi.nlm.nih.gov]
She had chronic cough and sputum production and she often presented fever. [ispub.com]
[…] disability-short stature-wedge-shaped epiphyses of knees syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: Q78.5 OMIM: 250215 UMLS: C1855243 MeSH: C537350 GARD: 3519 MedDRA: - The documents contained in this web site are presented [orpha.net]
Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]
Entire Body System
- Short Stature
We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands [pure.unipa.it]
stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short toe Short toes Stubby toes [ more ] 0001831 30%-79% of people have these symptoms Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Epicanthus Eye [rarediseases.info.nih.gov]
- Anemia
【貧血】 ⇒alimentary anemia【栄養性貧血】 ⇒aplastic anemia【再生不良性貧血】 ⇒hemolytic anemia【溶血性貧血】 ⇒hypochromic anemia【低色素性貧血】 ⇒iron deficiency anemia【鉄欠乏性貧血】 ⇒normocytic anemia【正球性貧血】 ⇒nutritional anemia【栄養性貧血】 ⇒osteosclerotic anemia【骨硬化性貧血】 ⇒pernicious anemia【悪性貧血】 [medo.jp]
Diaphyseal Dysplasia with Anemia (Ghosal) 108. Lenz-Majewski Hyperostotic Dysplasia 109. Pachydermoperiostosis 110. Hypertrophic Osteoarthropathy Currarino 111. Diaphyseal Medullar Stenosis with Bone Malignancy 112. [amazon.it]
[…] syndrome Cataract-intellectual disability-hypogonadism syndrome Cataract-nephropathy-encephalopathy syndrome Catel-Manzke syndrome Caudal appendage-deafness syndrome Cenani-Lenz syndrome Central nervous system calcification-deafness-tubular acidosis-anemia [se-atlas.de]
- Short Finger
Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short metacarpal Shortened long bone of hand 0010049 Short palm 0004279 Short phalanx of finger Short finger bones 0009803 Thickened calvaria Increased thickness of skull cap [rarediseases.info.nih.gov]
Its special features include severely retarded growth, psychomotor retardation, abnormally small arms and legs, extremely short fingers, and curvature of the knees. [encyclopedia.com]
Generalized and extremely short fingers are demonstrated in BThe affected mother had mild brachydactyly and short stature(138 cm; 2532 AMERICAN JOURNAL OF MEDICAL GENETICS PART A2.0 SD). [docslide.us]
Gastrointestinal
- Failure to Thrive
OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi, type vii, osteogenesis imperfecta, type iib, formerly;oi2b, formerly Related symptoms: Autosomal recessive inheritance Short stature Hearing impairment Scoliosis Failure to thrive SOURCES: GARD [mendelian.co]
This can bring about a wide range of effects, including asthma, pneumonia, sinusitis, diarrhea, problems with the liver, kidneys, spleen and skeletal system, and failure to thrive. [encyclopedia.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]
- Nausea
[…] myxoma【歯原性粘液腫】 *myxomatosis【粘液腫症】 *myxorrhea【粘液漏】 *myxosarcoma【粘液肉腫】 (N) *naevus fuscocaerules ophthalmomaxillaris【眼上顎褐青色母斑】[L] *nail ringworm【爪白癬】(tinea unguium[L]) *nanocephaly【小頭症】 *nasal obstruction【鼻閉塞】 *nasal polyp【鼻ポリープ∥鼻茸】 *nasopharyngitis【鼻咽頭炎】 *nausea [medo.jp]
- Vomiting
内臓発症】 *visceral ectopia【内臓転位(症)】 *visceral pain【内臓痛】(visceralgia) *visceral rheumatism【内臓リウマチ】 *visceralgia【内臓痛】(visceral pain) *vitreous clouding【硝子体混濁】(opacity of vitreous body) *vitreous hemorrhage【硝子体出血】 *vocal-cord adduction【声帯内転】 *volvulus【腸捻転】 *vomiting [medo.jp]
Cardiovascular
- Hypertension
Total More information Patient Medical History Cardiovascular Abnormal Electrocardiogram Aortic Stenosis Atrial fibrillation Cardiac arrest Chest pain Congestive heart failure Heart valve replacement Hypertension Murmur Heart attack Palpitations Peripheral [docplayer.net]
The intrarenal renin-angiotensin system: from physiology to the pathobiology of hypertension and kidney disease. Pharmacol Rev 2007; 59:251-87. [patologia.es]
【高血圧(症)】 ⇒diabetic hypertension【糖尿病性高血圧】 ⇒essential hypertension【本態性高血圧】 ⇒ocular hypertension【高眼圧(症)】 ⇒portal hypertension【門脈高血圧】 *hypertensive episode【高血圧発作】 *hypertensive encephalopathy【高血圧性脳症】 *hypertensive heart disease【高血圧性心疾患】(略 HHD) *hypertensive [medo.jp]
AD Brachydactyly Type A3 Brachydactyly Type B AD Brachydactyly Type C AD Brachydactyly Type D AD Brachydactyly Type E AD Pseudohypoparathyroidism (Albright Hereditary Osteodystrophy) AD Acrodysostosis SP(AD) Saldino-Mainzer dysplasia AR Brachydactyly-hypertension [gamuts.isradiology.org]
See Allergy Hypertelorism acrocallosal syndrome, 1: 27 frontonasal dysplasia, 1: 441 Opitz syndrome, 2: 838 Hypertension, 2:985–987 See also Essential hypertension Hyperthermia, 2: 1116 See also Malignant hyperthermia (MH) Hyperthyroidism, 2: 902–906 [studfiles.net]
Musculoskeletal
- Brachydactyly
The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. [ncbi.nlm.nih.gov]
We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands [pure.unipa.it]
Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. [malacards.org]
Title Other Names: Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly; Wedge-shaped epiphyses of knees; Bellini syndrome; Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly; Wedge-shaped epiphyses of knees; Bellini [rarediseases.info.nih.gov]
They all had radiological findings consistent withsevere metaphyseal scypho-deformity and brachydactyly. [docslide.us]
- Severe Brachydactyly
The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. [ncbi.nlm.nih.gov]
We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands [pure.unipa.it]
[…] short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet (1; 2). [ispub.com]
PTHresistance (Ca 8.9mg/dl, IP 0.6mg/dl, and intact PTH 132 pg/ml)was suspected in the early childhood based on the history of shortstature, severe brachydactyly, and intellectual impairment. [docslide.us]
- Severe Short Stature
We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands [pure.unipa.it]
Abstract We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short [ispub.com]
stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short toe Short toes Stubby toes [ more ] 0001831 30%-79% of people have these symptoms Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Epicanthus Eye [rarediseases.info.nih.gov]
- Short Hands
[…] epiphyses, short hands and feet, dental malocclusion. [pure.unipa.it]
hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. [ispub.com]
- Advanced Bone Age
Showing of 40 | 80%-99% of people have these symptoms Abnormality of the metaphysis Abnormality of the wide portion of a long bone 0000944 Accelerated skeletal maturation Advanced bone age Early bone maturation [ more ] 0005616 Brachydactyly Short fingers [rarediseases.info.nih.gov]
These patients showed cone-shaped epiphyses involving the knee with metaphyseal cupping of hand bones, cone-shaped epiphyses of phalanges, slender phalanges of normal length, advanced bone age and complete alopecia (5). [ispub.com]
Skin
- Alopecia
The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.Visit the Orphanet disease page for more resources. [malacards.org]
The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. [orpha.net]
The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. Last updated: 11/30/2014 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]
[…] 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]
Psychiatrical
- Psychomotor Retardation
Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely. [ncbi.nlm.nih.gov]
Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely. PMID: 1860252 [PubMed - indexed for MEDLINE] Related articles Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs. [proz.com]
Its special features include severely retarded growth, psychomotor retardation, abnormally small arms and legs, extremely short fingers, and curvature of the knees. [encyclopedia.com]
retardation due to S-adenosylhomocysteine hydrolase deficiency Pterygium colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate dehydrogenase [se-atlas.de]
Treatment
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
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]
Frequency, severity, and response to treatment. Arch Gen Psychiatry. 1988;45:437–443. [PubMed] [Google Scholar] 24. Romans-Clarkson S.E., Walton V.A., Herbison G.P., Mullen P.E. [ncbi.nlm.nih.gov]
Prognosis
Prognosis In many cases, patients with metaphyseal dysplasia may be symptomless and very healthy. [encyclopedia.com]
Molecular, and cytogenetic insights into the pathogenesis, classification, differential diagnosis, and prognosis of renal epithelial neoplasms. Hum Pathol 2009; 40: 10-29. Thoenes W, Störkel S, Rumpelt HJ, y cols. [patologia.es]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Epidemiology
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]
Epidemiology and comorbidity of anxiety disorders in the elderly. Am J Psychiatry. 1994;151:640–649. [PubMed] [Google Scholar] 27. Faravelli C., Guerrini Degl’Innocenti B., Giardinelli L. Epidemiology of anxiety disorders in Florence. [ncbi.nlm.nih.gov]
Prevention
Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects. [icdlist.com]
[…] spondyloepiphyseal dysplasia, 2: 1090–1091 Stickler syndrome, 2: 1096–1097 Williams syndrome, 2: 1197 Wiskott-Aldrich syndrome, 2: 1203–1204 See also Genetic testing Presenilin 1 gene, 1: 66 Presenilin 2 gene, 1: 66 Presymptomatic genetic testing, 1: 478 Preventive [studfiles.net]