Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.



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)
1
(53.2%)		 19161141
 Further clinical delineation of the Borjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
Carter MT, Picketts DJ, Hunter AG, Graham GE.
Am J Med Genet A. 2009;149A(2):246-50.
Microcephaly Tapered finger
PHF6
Adult Carrier Proteins Child Face Females Fingers Genetic Diseases, X-Linked Growth Disorders Homo sapiens Hypogonadism Infant Male Mental Retardation, X-Linked Middle Aged Obesity Repressor Proteins Syndrome
2
(50.7%)		 24380767
 Distinct phenotype of PHF6 deletions in females.
Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K.
Eur J Med Genet. 2014;57(2-3):85-9.
Synophrys Cutaneous syndactyly
PHF6
Carrier Proteins Chromosome Deletion Chromosomes, Human, X Congenital Hand Deformities Epilepsy Face Facies Females Fingers Fluorescent in Situ Hybridization Gene Deletion Growth Disorders Homo sapiens Hypogonadism Infant Intellectual Disability Mental Retardation, X-Linked Micrognathism Neck Obesity Phenotype Repressor Proteins
3
(41.7%)		 3720009
 The Borjeson-Forssman-Lehmann syndrome. A family study.
Dereymaeker AM, Fryns JP, Hoefnagels M, Heremans G, Marien J, van den Berghe H.
Clin Genet. 1986;29(4):317-20.
Microcephaly Protruding tongue
Child Epilepsy Females Genes, Dominant Homo sapiens Intellectual Disability Male Microcephaly Syndrome X Chromosome
4
(39.0%)		 3593038
 [Borjeson-Forssman-Lehmann syndrome: report of a case].
Wojciechowski M, Dutra-Filho CS, Da Costa AC, Laser LF, Giugliani R, Rotta NT, Ohlweiler L.
Arq Neuropsiquiatr. 1986;44(3):289-92.
Microcephaly
Epilepsy Homo sapiens Hyperglycemia Infant Intellectual Disability Male Male Genital Organs Microcephaly Obesity Phenotype Renal Aminoacidurias Syndrome
5
(35.4%)		 1746601
 New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.
Wilson M, Mulley J, Gedeon A, Robinson H, Turner G.
Am J Med Genet. 1991;40(4):406-13.
Emotional lability Tapered finger
rs1556319125
Adult Chromosome Mapping Genetic Markers Gynecomastia Homo sapiens Hormones Intellectual Disability Male Middle Aged Obesity Syndrome X Chromosome
6
(35.3%)		 24092917
 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Ludecke HJ, Wieczorek D.
J Med Genet. 2013;50(12):838-47.
Hypogonadism Brachydactyly
PHF6
Adult Carrier Proteins Child DNA Mutational Analysis Epilepsy Face Females Fingers Foot Growth Disorders Hand Homo sapiens Hypogonadism Mental Retardation, X-Linked Mutation Obesity Phenotype Repressor Proteins Young Adult
7
(4.0%)		 28237832
 Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.
Kasper BS, Dorfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C.
Epilepsy Behav. 2017;69:104-109.
Intellectual disability
PHF6
Adult Brain Epilepsy Face Females Fingers Growth Disorders Homo sapiens Hypogonadism Intellectual Disability Mental Retardation, X-Linked Mutation Obesity Young Adult
7
(4.0%)		 19187102
 Behavioural phenotype in Borjeson-Forssman-Lehmann syndrome.
de Winter CF, van Dijk F, Stolker JJ, Hennekam RC.
J Intellect Disabil Res. 2009;53(4):319-28.
Intellectual disability
Adult Anxiety Body Height Carrier Proteins Chromosomes, Human, X Diagnostic and Statistical Manual of Mental Disord... Genotype Homo sapiens Intellectual Disability Male Microcephaly Obesity Paraphilias Phenotype Point Mutation Repressor Proteins Syndrome Young Adult
7
(4.0%)		 14714754
 Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.
Birrell G, Lampe A, Richmond S, Bruce SN, Gecz J, Lower K, Wright M, Cheetham TD.
J Pediatr Endocrinol Metab. 2003;16(9):1295-300.
Optic nerve hypoplasia
GH1
c|SUB|A|22|T;RS#:132630301 p|SUB|K|8|X;RS#:132630301
Codon, Nonsense Corpus Callosum Cryptorchidism Eye Abnormalities Gene Expression Genes, Recessive Genetic Diseases, X-Linked Homo sapiens Hyperbilirubinemia Hypoglycemia Infant, Newborn Magnetic Resonance Imaging Male Optic Nerve Physiognomy Pituitary Gland Pituitary Hormones Polyacrylamide Gel Electrophoresis Sibling Syndrome
7
(4.0%)		 10564881
 Borjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation.
Kubota T, Oga S, Ohashi H, Iwamoto Y, Fukushima Y.
Am J Med Genet. 1999;87(3):258-61.
Obesity
Adult Epilepsy Face Females Homo sapiens Intellectual Disability Obesity Polymerase Chain Reaction Syndrome X Chromosome
        

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000046 Scrotal hypoplasia Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000771 Gynecomastia Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001769 Broad foot Very frequent (99-80%)
HP:0001831 Short toe Very frequent (99-80%)
HP:0001836 Camptodactyly of toe Very frequent (99-80%)
HP:0001956 Truncal obesity Very frequent (99-80%)
HP:0008070 Sparse hair Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0009748 Large earlobe Very frequent (99-80%)
HP:0000336 Prominent supraorbital ridges Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000574 Thick eyebrow Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0003202 Skeletal muscle atrophy Occasional (29-5%)
HP:0003272 Abnormality of the hip bone Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)
HP:0009830 Peripheral neuropathy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0000135 Hypogonadism 4
HP:0001249 Intellectual disability 2
HP:0001513 Obesity 2
HP:0000252 Microcephaly 1
HP:0001250 Seizures 1
HP:0005857 Cervical spina bifida 1
HP:0100543 Cognitive impairment 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PHF6 PHD finger protein 6 84295