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)
7
(4.0%)		 9213062
 Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family.
Petridou M, Kimiskidis V, Deligiannis K, Kazis A.
Clin Neurol Neurosurg. 1997;99(2):148-50.
Seizure
Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Neurologic Examination Syndrome Tonic-Clonic Epilepsy
7
(4.0%)		 8031539
 Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type.
de Die-Smulders C, van Schrojenstein Lantman-De Valk H, Fryns JP.
Genet Couns. 1994;5(1):73-5.
Male pseudohermaphroditism
Adult Deafness Disorders of Sex Development Eye Abnormalities Homo sapiens Intellectual Disability Male Phenotype Spina Bifida Occulta Syndrome
7
(4.0%)		 2098045
 Male pseudohermaphroditism with persistent mullerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?
Verloes A, Gillerot Y, Delfortrie J, Zeevaert-Arnold MT, Collard R, Koulischer L, Fryns JP.
Genet Couns. 1990;1(3-4):219-25.
Male pseudohermaphroditism
Adult Anus, Imperforate Disorders of Sex Development Homo sapiens Intellectual Disability Male Syndrome
7
(4.0%)		 564968
 Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.
Weber FT, Frias JL, Julius RL, Felman AH.
J Med Genet. 1978;15(1):63-6.
Hypogonadism
Adult Face Females Genes, Recessive Homo sapiens Hypogonadism Intellectual Disability Male Microcephaly Syndrome X Chromosome
7
(4.0%)		 537034
 The Borjeson-Forssman-Lehmann syndrome: a new case.
Veall RM, Brett EM, Rivinus TM, Stephens R.
J Ment Defic Res. 1979;23(4):231-42.
Hypogonadism
GH1
Adult Child Child Development Child, Preschool Dermatoglyphics Dwarfism Follow-Up Studies Homo sapiens Hormones Infant Intellectual Disability Male Orofaciodigital Syndromes
        

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