Metaphyseal acroscyphodysplasia

Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. 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.



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Narrow down the case reports



Total: 3 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(47.5%)		 1860252
 Metaphyseal acroscyphodysplasia.
Verloes A, Le Merrer M, Farriaux JP, Maroteaux P.
Clin Genet. 1991;39(5):362-9.
Brachydactyly Micromelia
Bone and Bones Child Child, Preschool Dwarfism Females Hereditary Multiple Exostoses Homo sapiens Metacarpus
2
(35.3%)		 25044890
 Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T.
Am J Med Genet A. 2014;164A(10):2529-34.
Brachydactyly
GNAS PDE4D
p|SUB|I|333|T p|SUB|Q|19|X p|SUB|R|231|C p|SUB|T|224|I
Bone Diseases, Developmental Brachydactyly Child Child, Preschool Chromogranins Congenital Hand Deformities Cyclic Nucleotide Phosphodiesterases, Type 4 Dysostoses Females GTP-Binding Protein alpha Subunits, Gs Hereditary Multiple Exostoses Homo sapiens Intellectual Disability Knee Mutation Osteochondrodysplasias Pseudohypoparathyroidism
3
(32.7%)		 7487766
 Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.
Kozlowski K, Meradji M, Beemer FA.
Australas Radiol. 1995;39(3):282-6.
Cone-shaped epiphysis Metaphyseal dysplasia
Child Child, Preschool Females Femur Homo sapiens Infant Knee Netherlands Osteochondrodysplasias
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000940 Abnormal diaphysis morphology Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001831 Short toe Very frequent (99-80%)
HP:0002673 Coxa valga Very frequent (99-80%)
HP:0002823 Abnormality of femur morphology Very frequent (99-80%)
HP:0002970 Genu varum Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0005616 Accelerated skeletal maturation Very frequent (99-80%)
HP:0006059 Cone-shaped metacarpal epiphyses Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0010579 Cone-shaped epiphysis Very frequent (99-80%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001373 Joint dislocation Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0011220 Prominent forehead Frequent (79-30%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0012368 Flat face Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0010579 Cone-shaped epiphysis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID