Aase-Smith syndrome

A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.



Input patient's signs and symptoms


Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.8%)		 7974814
 Aase-Smith syndrome: report of a new case with unusual features.
Yetgin S, Balci S, Irken G, Coskun T, Say B.
Turk J Pediatr. 1994;36(3):239-42.
Microcephaly Preaxial polydactyly
Aplastic Anemia Celiac Disease Congenital Hand Deformities Females Homo sapiens Infant Kidney Leukopenia Microcephaly Polydactyly Remission Induction Syndrome
2
(39.0%)		 9001811
 Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?
David A, Nombalais MF, Rival JM, Verloes A.
Clin Genet. 1996;50(4):251-4.
Dandy-Walker malformation
Adult Arthrogryposis Central Nervous System Cleft Palate Dandy-Walker Syndrome Fetal Diseases Homo sapiens Hypokinesia Male Syndrome
2
(39.0%)		 4075562
 The Aase-Smith syndrome.
Patton MA, Sharma A, Winter RM.
Clin Genet. 1985;28(6):521-5.
Dandy-Walker malformation
Adult Cleft Palate Contracture Dandy-Walker Syndrome Females Genes, Dominant Homo sapiens Infant, Newborn Syndrome
4
(4.0%)		 8204444
 Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome.
D'Avanzo M, Pistoia V, Santinelli R, Tolone C, Toraldo R, Corcione A, Canino G, Iafusco F.
Pediatr Hematol Oncol. 1994;11(2):189-95.
Anemia
Child, Preschool Erythropoiesis Females Homo sapiens Infant Male Pure Red-Cell Aplasia Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000211 Trismus Very frequent (99-80%)
HP:0000377 Abnormality of the pinna Very frequent (99-80%)
HP:0001305 Dandy-Walker malformation Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002828 Multiple joint contractures Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0006501 Aplasia/Hypoplasia of the radius Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0001238 Slender finger Occasional (29-5%)
HP:0002664 Neoplasm Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0000252 Microcephaly 1
HP:0001305 Dandy-Walker malformation 1
HP:0001882 Leukopenia 1
HP:0001903 Anemia 1
HP:0100258 Preaxial polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID