Borjeson-Forssman-Lehmann syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE
BORJESON SYNDROME
MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS
MRXSBFL
BORJ
BFLS
Intelectual deficiency - epilepsy - endocrine disorders
Number of Symptoms 62
OrphanetNr: 127
OMIM Id: 301900
ICD-10: Q87.8
UMLs: C0265339
MeSH: C536575
MedDRA:
Snomed: 21634003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease
Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
2
 (HPO:0008687) Hypoplasia of the prostate 1 / 7739
3
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
4
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
7
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
8
 (HPO:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
9
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
10
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
11
 (HPO:0002684) Thickened calvaria 32 / 7739
12
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
13
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
14
 (HPO:0000336) Prominent supraorbital ridges Frequent [Orphanet] 45 / 7739
15
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
16
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
17
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
18
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
19
 (HPO:0000505) Visual impairment 297 / 7739
20
 (HPO:0009748) Large earlobe Very frequent [Orphanet] 27 / 7739
21
 (HPO:0000400) Macrotia 108 / 7739
22
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
23
 (HPO:0010864) Intellectual disability, severe 120 / 7739
24
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
25
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
26
 (HPO:0002353) EEG abnormality 188 / 7739
27
 (HPO:0000771) Gynecomastia Very frequent [Orphanet] 53 / 7739
28
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
29
 (HPO:0000823) Delayed puberty 65 / 7739
30
 (HPO:0006118) Shortening of all distal phalanges of the fingers 3 / 7739
31
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
32
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
33
 (HPO:0001831) Short toe 52 / 7739
34
 (HPO:0002808) Kyphosis 289 / 7739
35
 (HPO:0001836) Camptodactyly of toe Very frequent [Orphanet] 27 / 7739
36
 (HPO:0008445) Cervical spinal canal stenosis 3 / 7739
37
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
38
 (HPO:0001769) Broad foot Very frequent [Orphanet] 31 / 7739
39
 (HPO:0008478) Scheuermann-like vertebral changes 1 / 7739
40
 (HPO:0002650) Scoliosis 705 / 7739
41
 (HPO:0006110) Shortening of all middle phalanges of the fingers 7 / 7739
42
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
43
 (HPO:0008094) Widely spaced toes 2 / 7739
44
 (HPO:0001956) Truncal obesity Very frequent [Orphanet] 39 / 7739
45
 (HPO:0001513) Obesity 172 / 7739
46
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
47
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
48
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
49
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
50
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
51
 (HPO:0010547) Muscle flaccidity 466 / 7739
52
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
53
 (HPO:0001324) Muscle weakness 859 / 7739
54
 (OMIM) Gynecomastia, postpubertal 1 / 7739
55
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
57
 (OMIM) Soft, fleshy hands 1 / 7739
58
 (OMIM) Moderate obesity 1 / 7739
59
 (OMIM) Hypoplastic distal and middle phalanges 3 / 7739
60
 (OMIM) Small atrophic testes 2 / 7739
61
 (OMIM) Widely spaced and flexed toes 1 / 7739
62
 (OMIM) Mild scoliosis 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The features of this syndrome, described in a single kindred by Borjeson et al. (1962), are severe mental defect, epilepsy, hypogonadism, hypometabolism, marked obesity, swelling of subcutaneous tissue of face, narrow palpebral fissure, and large but not deformed ...
Molecular genetics OMIM Lower et al. (2002) narrowed the interval of the BFLS locus to roughly 9 Mb containing more than 62 genes. Among these, a novel, widely expressed zinc finger gene, designated PHF6 (300414), had 8 missense and truncation mutations ...