Hand-foot-genital syndrome

Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.



Input patient's signs and symptoms


Narrow down the case reports



Total: 15 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
10
(4.0%)		 21344639
 Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.
Jun KR, Seo EJ, Lee JO, Yoo HW, Park IS, Yoon HK.
Am J Med Genet A. 2011;155A(3):642-7.
Hypospadias
HOXA13 HOXA3 HOXA@
Base Pairing Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 7 Cytogenetic Analysis Fluorescent in Situ Hybridization Foot Genome, Human Homeodomain Proteins Homo sapiens Infant Male Metaphase Multigene Family Phenotype
10
(4.0%)		 15737130
 Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?
Kosaki R, Higuchi M, Mitsui N, Matsushima K, Ohashi H, Kosaki K.
Congenit Anom (Kyoto). 2005;45(1):35-8.
Rectoperineal fistula
HOXA@
Acrocephalosyndactylia Anus, Imperforate Child, Preschool Chromosomes, Human, Pair 7 External Ear Females Fingers Fluorescent in Situ Hybridization Gene Deletion Homeodomain Proteins Homo sapiens Male Multigene Family Nuclear Proteins Phenotype Syndrome Twist-Related Protein 1
10
(4.0%)		 15378350
 Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.
Duno M, Hove H, Kirchhoff M, Devriendt K, Schwartz M.
Hum Genet. 2004;115(6):459-67.
Hearing impairment
Child, Preschool Chromosomes, Human, Pair 7 Cloning, Molecular Cytogenetics DNA Estrogen Receptors Facies Females Gene Deletion Genome, Human Histone Deacetylase Homo sapiens Intellectual Disability Male Models, Genetic Multigene Family Polymerase Chain Reaction Repressor Proteins Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Short Tandem Repeat Syndrome
10
(4.0%)		 8375102
 The hand-foot-genital syndrome: on the variable expression in affected males.
Fryns JP, Vogels A, Decock P, van den Berghe H.
Clin Genet. 1993;43(5):232-4.
Hypospadias
Congenital Foot Deformity Congenital Hand Deformities Homo sapiens Hypospadias Infant, Newborn Male Syndrome
10
(4.0%)		 1442892
 Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation.
Donnenfeld AE, Schrager DS, Corson SL.
Am J Med Genet. 1992;44(4):482-4.
Ureteropelvic junction obstruction
Adult Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Hypospadias Infant, Newborn Male Pregnancy Pregnancy Complications Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000074 Ureteropelvic junction obstruction Very frequent (99-80%)
HP:0000130 Abnormality of the uterus Very frequent (99-80%)
HP:0000813 Bicornuate uterus Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0006110 Shortening of all middle phalanges of the fingers Very frequent (99-80%)
HP:0009623 Proximal placement of thumb Very frequent (99-80%)
HP:0009778 Short thumb Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0010034 Short 1st metacarpal Very frequent (99-80%)
HP:0010105 Short first metatarsal Very frequent (99-80%)
HP:0010109 Short hallux Very frequent (99-80%)
HP:0000010 Recurrent urinary tract infections Frequent (79-30%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000076 Vesicoureteral reflux Frequent (79-30%)
HP:0000795 Abnormality of the urethra Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0008080 Hallux varus Frequent (79-30%)
HP:0011937 Hypoplastic fifth toenail Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000960 Sacral dimple Occasional (29-5%)
HP:0001162 Postaxial hand polydactyly Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0005268 Spontaneous abortion Occasional (29-5%)
HP:0008551 Microtia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0008080 Hallux varus 2
HP:0001159 Syndactyly 1
HP:0001792 Small nail 1
HP:0001822 Hallux valgus 1
HP:0009778 Short thumb 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HOXA13 homeobox A13 3209