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]

• 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]

• Disability

  disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

  Schinzel- Giedion syndrome 0 *Abnormalities, Multiple *Hand Deformities, Congenital *Intellectual Disability *Nails, Malformed *Craniofacial Abnormalities. [reference.md]

  This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013 ). [mendelian.co]

  ORPHA:1240 Synonym(s): Bellini syndrome Intellectual 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 [orpha.net]

  DEFINITIONS DISABILITY-RELATED DEFINITIONS 1. [docplayer.net]

• 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]

• Congestive Heart Failure

  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]

  heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual [se-atlas.de]

  failure【先天性心不全】[略 CHF] *congenital pneumonia【先天性肺炎】 *congenital rubella syndrome【先天性風疹症候群】[略 CRS] *congenital salivary fistula【先天性唾液瘻】 *congenital syphilis【先天性梅毒】 *congestive bronchiolitis【うっ血性細気管支炎】 *congestive cirrhosis【うっ血性肝硬変】 *congestive heart failure [medo.jp]

• Dentist

  The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies. [books.google.com]

  Dentists may notice malocclusion, an inability of the teeth to properly close. Some spinal changes are possible, associated with the flaring of tubular bones. These may include platyspondyly, a broadening of the vertebrae. [encyclopedia.com]

• Pneumonia

  ⇒drug pneumonia【薬剤性肺炎】 ⇒eosinophilic pneumonia【好酸球性肺炎】 ⇒focal pneumonia【巣状肺炎】 ⇒fungal pneumonia【真菌性肺炎】 ⇒hypersensitivity pneumonia【過敏性肺炎】 ⇒inhalation pneumonia【吸入性肺炎∥吸引性肺炎】 ⇒interstitial pneumonia【間質性肺炎】 ⇒intra-alveolar pneumonia【肺胞内肺炎】 ⇒lobar pneumonia [medo.jp]

  Reduced levels of white blood cells may cause these patients to be vulnerable to repeated bouts with pneumonia, otitis media, and other bacterial infections. [encyclopedia.com]

• Malocclusion

  […] micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion [pure.unipa.it]

  She presented dysmorphic features, like reduced biparietal diameter, prominent frontal bossings, depressed nasal bridge, dental malocclusion and narrow chest. She also had short hands and feet. [ispub.com]

  Dentists may notice malocclusion, an inability of the teeth to properly close. Some spinal changes are possible, associated with the flaring of tubular bones. These may include platyspondyly, a broadening of the vertebrae. [encyclopedia.com]

• Receding Chin

  These include prominent, widely spaced eyes, a receding chin, or a highly arched palate. Some affected adults develop unusually hardened bones in the back of the head, which sometimes results in deafness and/or blindness. [encyclopedia.com]

• 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]

• Joint Dislocation

  Affiliated tissues include bone, and related phenotypes are hypertelorism and joint dislocation Description from OMIM: 250215 [malacards.org]

  dislocation Joint dislocations Recurrent joint dislocations [ more ] 0001373 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220 Telecanthus Corners of eye widely separated 0000506 Wide nasal bridge Broad nasal bridge Broad nasal [rarediseases.info.nih.gov]

  Chondrodysplasia with congenital joint dislocations, CST3 type 47. Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50. [amazon.it]

  bilateral Congenital elbow dislocation, unilateral Congenital genu flexum Congenital genu recurvatum Congenital heart defect-round face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation [se-atlas.de]

• 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]

• 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]

• 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]

• Hypertelorism

  Affiliated tissues include bone, and related phenotypes are hypertelorism and joint dislocation Description from OMIM: 250215 [malacards.org]

  […] disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism [mendelian.co]

  •brachycephaly (anteroposterior shortening of the head), •scapocephaly (lateral flattening of the head), and craniosynostoses (premature fusion of the sutures), hypertelorism micropathia Clover leaf skull Thanatophoric Dysplasia Osteogenesis Imperfecta [slideshare.net]

  ] 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 folds Prominent eye folds [ more ] 0000286 Frontal bossing 0002007 Hypertelorism [rarediseases.info.nih.gov]

  […] the aqueduct of Sylvius Hydrocephaly-cerebellar agenesis syndrome Hyperekplexia-epilepsy syndrome Hyperostosis corticalis generalisata Hyperphalangy Hyperphalangy, bilateral Hyperphalangy, unilateral Hyperphosphatasia-intellectual disability syndrome Hypertelorism [se-atlas.de]

• 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]

• Irritability

  *fibrillation【細動】 *fibrinoid degeneration【線維素様変性∥フィブリン様変性】 *fibrinoid necrosis【類線維素壊死】 *fibrinous pleuritis【線維素性胸膜炎】 *fibroadenoma【線維腺腫】 *fibrodentinoma【線維象牙質腫】 *fibrolipoma【線維脂肪腫】 *fibroma【線維腫】 ⇒denture fibroma【義歯性線維腫】 ⇒giant cell fibroma【巨細胞性線維腫】 ⇒irritation [medo.jp]

• Waddling Gait

  Often, they develop a characteristic "waddling gait" and a stance that appears as if they were squatting. Some facial abnormalities may be evident at birth. These include prominent, widely spaced eyes, a receding chin, or a highly arched palate. [encyclopedia.com]

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 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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

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]

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]