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Metaphyseal Acroscyphodysplasia


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]
  • […] 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]
  • She had chronic cough and sputum production and she often presented fever.[ispub.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
  • 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]
  • 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]
  • […] 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 Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability[rarediseases.info.nih.gov]
Short Finger
  • finger Stubby finger Stubby fingers [ more ] 0009381 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[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]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
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]
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]
  • 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]
  • 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]
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]
  • Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.[orpha.net]
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]
  • 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 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]
  • 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]
Coxa Valga
  • The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features.[ncbi.nlm.nih.gov]
  • valga 0002673 Genu varum Outward bow-leggedness Outward bowing at knees [ more ] 0002970 Micromelia Smaller or shorter than typical limbs 0002983 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short toe Short[rarediseases.info.nih.gov]
  • valga【外反股】[略 CHF]( collum valgum[L]) *coxa vara【内反股】[略 CHF] *cramp【痙攣】 intermittent cramp【間欠痙攣】 *cranial polyneuritis【多発脳神経炎】 *craniofacial dysostosis【頭蓋顔面異骨症】 *craniomalacia【頭蓋骨軟化(症)】 *craniopathy【頭蓋病】 *craniopharyngioma【頭蓋咽頭腫 頭蓋咽頭管腫瘍】 *cranioschisis[medo.jp]
Platyspondyly
  • Zygomatic flattening 0000272 Metaphyseal cupping 0003021 Metaphyseal widening Broad wide portion of long bone 0003016 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Narrow pelvis bone 0003275 Platyspondyly[rarediseases.info.nih.gov]
  • Hypoplastic scapula Platyspondyly Jarcho-Levin syndrome Hemivertebra and block vertebra OI fetus Chest hypoplasia micrognathia, •short upper lip, •abnormally shaped ears, •frontal bossing, •cloverleaf skull.[slideshare.net]
  • These may include platyspondyly, a broadening of the vertebrae.[encyclopedia.com]
  • ., 1994], and spondylo-scypho-dysplasia with platyspondyly and brachydactyly [Sprangeret al., 1993] and as an acquired phenomenon in some patientsfollowing neonatal septicemia with meningococcus or pneumo-coccus [Damry et al., 1993], hypervitaminosis[docslide.us]
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]
Suggestibility
  • Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested.[ncbi.nlm.nih.gov]
  • Bellini et al. (2) described the syndrome in two siblings, suggesting the possibility of an autosomal recessive inheritance.[ispub.com]
  • ----------------------------------- Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested[proz.com]
Hypertelorism
  • Affiliated tissues include bone , and related phenotypes are hypertelorism and joint dislocation Description from OMIM: 250215[malacards.org]
  • ] 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]
  • […] 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]
  • […] 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]
Frontal Bossing
  • bossing 0002007 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint dislocation Joint dislocations Recurrent[rarediseases.info.nih.gov]
  • Hypoplastic scapula Platyspondyly Jarcho-Levin syndrome Hemivertebra and block vertebra OI fetus Chest hypoplasia micrognathia, •short upper lip, •abnormally shaped ears, •frontal bossing, •cloverleaf skull.[slideshare.net]
  • bossing, midface hypoplasia, and micrognathia).[mendelian.co]
  • 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]
Broad Nasal Bridge
  • 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]
Narrow Face
  • face Sandal gap Cachexia Reduced number of teeth Multiple pterygia Distal arthrogryposis Prematurely aged appearance Short neck Ventriculomegaly Cerebellar atrophy High forehead Dandy-Walker malformation Low anterior hairline Spina bifida Plagiocephaly[mendelian.co]

Workup

Shortened Long Bone
  • long bone of hand 0010049 Short palm 0004279 Short phalanx of finger Short finger bones 0009803 Thickened calvaria Increased thickness of skull cap Thickened skull cap [ more ] 0002684 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Showing[rarediseases.info.nih.gov]

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]
  • 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]
  • 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]

Prognosis

  • Prognosis In many cases, patients with metaphyseal dysplasia may be symptomless and very healthy.[encyclopedia.com]

Etiology

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

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]

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