SCARF syndrome

SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(37.2%)		 2596519
 Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).
Koppe R, Kaplan P, Hunter A, MacMurray B.
Am J Med Genet. 1989;34(3):305-12.
Webbed neck Pectus carinatum
Bone and Bones Cutis Laxa Face Genes, Recessive Homo sapiens Infant, Newborn Intellectual Disability Male Male Genital Organs Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000048 Bifid scrotum Frequent (79-30%)
HP:0000051 Perineal hypospadias Frequent (79-30%)
HP:0000054 Micropenis Frequent (79-30%)
HP:0000280 Coarse facial features Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000465 Webbed neck Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000768 Pectus carinatum Frequent (79-30%)
HP:0000879 Short sternum Frequent (79-30%)
HP:0000973 Cutis laxa Frequent (79-30%)
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0001540 Diastasis recti Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0006297 Hypoplasia of dental enamel Frequent (79-30%)
HP:0006610 Wide intermamillary distance Frequent (79-30%)
HP:0008070 Sparse hair Frequent (79-30%)
HP:0011084 Hypocalcification of dental enamel Frequent (79-30%)
HP:0012028 Hepatocellular adenoma Frequent (79-30%)
HP:0012810 Wide nasal base Frequent (79-30%)
HP:0002342 Intellectual disability, moderate Occasional (29-5%)
HP:0002557 Hypoplastic nipples Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000062 Ambiguous genitalia 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID