Acropectorovertebral dysplasia

A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(35.4%)		 11333865
 A novel acropectoral syndrome maps to chromosome 7q36.
Dundar M, Gordon TM, Ozyazgan I, Oguzkaya F, Ozkul Y, Cooke A, Wilkinson AG, Holloway S, Goodman FR, Tolmie JL.
J Med Genet. 2001;38(5):304-9.
Syndactyly Triphalangeal thumb
Chromosome Mapping Chromosomes, Human, Pair 7 Females Haplotypes Homo sapiens Limb Deformities, Congenital Lod Score Male Mutation Phenotype Recombination, Genetic Short Tandem Repeat Syndrome
2
(33.1%)		 7677153
 F-syndrome (F-form of acro-pectoro-vertebral dysplasia): report on a second family.
Camera G, Camera A, Pozzolo S, Costa M, Mantero R.
Am J Med Genet. 1995;57(3):472-5.
Pectus excavatum Foot polydactyly
Adult Chest Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Infant, Newborn Male Syndrome
3
(4.0%)		 17668405
 [Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family].
Carrascosa-Romero MC, Pardal-Fernandez JM, Sotoca-Fernandez J, Onsurbe I, Tebar-Gil R.
Rev Neurol. 2007;45(4):229-32.
Pulmonary hypoplasia
Adult Females Homo sapiens Klippel-Feil Syndrome Male Neuromuscular Diseases Pregnancy
3
(4.0%)		 16411237
 Behavioral management of a long-term survivor with tetrasomy 18p.
Swingle HM, Ringdahl J, Mraz R, Patil S, Keppler-Noreuil K.
Am J Med Genet A. 2006;140(3):276-80.
Aggressive behavior
S100A10
Adult Child Chromosome Aberrations Chromosome Painting Chromosomes, Human, Pair 18 Follow-Up Studies Homo sapiens Male Survivors
3
(4.0%)		 2424425
 The proteinase inhibitor complexes (antithrombin III-thrombin, alpha 2antiplasmin-plasmin and alpha 1antitrypsin-elastase) in septicemia, fulminant hepatic failure and cardiac shock: value for diagnosis and therapy control in DIC/F syndrome.
Egbring R, Seitz R, Blanke H, Leititis J, Kesper HJ, Burghard R, Fuchs G, Lerch L.
Behring Inst Mitt. 1986;(79):87-103.
Shock
NR5A1 PLG SERPINA1 SERPINC1 SERPINF2
Antifibrinolytic Agents Child, Preschool Disseminated Intravascular Coagulation Females Homo sapiens Male Pancreatic Elastase Protease Inhibitors Sepsis Shock, Cardiogenic Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000767 Pectus excavatum Very frequent (99-80%)
HP:0001199 Triphalangeal thumb Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0008368 Tarsal synostosis Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0002414 Spina bifida Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0001159 Syndactyly 1
HP:0002652 Skeletal dysplasia 1
HP:0031273 Shock 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID