ORPHA:127
Borjeson-Forssman-Lehmann syndrome
Synonyms: BFLS · Intellectual disability-epilepsy-endocrine disorders syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Borjeson-Forssman-Lehmann syndrome | BFLS · Intellectual disability-epilepsy-endocrine disorders syndrome |
| fr | Syndrome de Borjeson-Forssman-Lehmann | BFLS · Syndrome de déficience intellectuelle-épilepsie-anomalies endocrines |
| de | Borjeson-Forssman-Lehmann-Syndrom | BFLS · Intelligenzminderung-Epilepsie-endokrine Störung-Syndrom |
| es | Síndrome de Borjeson-Forssman-Lehmann | Síndrome de discapacidad intelectual-epilepsia-trastornos endocrinos |
| it | Sindrome di Borjeson-Forssman-Lehmann | BFLS |
| nl | Syndroom van Borjeson-Forssman-Lehmann | BFLS · Intellectuele achterstand - epilepsie - endocriene stoornissen-syndroom |
| pt | Síndrome Borjeson-Forssman-Lehmann | BFLS · Síndrome de perturbação do desenvolvimento intelectual-epilepsia-disfunção endócrina |
| pl | Zespół Borjesona, Forssmana i Lehmana | BFLS · Niepełnosprawność intelektualna - padaczka - zaburzenia endokrynologiczne · BFLS · Zespół niepełnosprawności intelektualnej, padaczki i zaburzeń endokrynologicznych |
| cs | Borjesonův-Forssmanův-Lehmannův syndrom | BFLS · Syndrom zahrnující mentální retardaci, epilepsii a endokrinní poruchy · Borjeson-Forssman-Lehmannův syndrom |
| uk | Синдром Борджесона-Форсмана-Лемана | BFLS · Синдром інтелектуальної недостатності-епілепсії-ендокринних розладів |
| zh | Borjeson-Forssman-Lehmann综合征 | 智力障碍-癫痫-内分泌失调综合征 |
| tr | Borjeson-Forssman-Lehmann sendromu | BFLS · Zihinsel yetersizlik-epilepsi-endokrin bozuklukları sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301900 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD29 | NTBT | index | validated |
| MONDO | 0010537 | E | validated | |
| MeSH | C536575 | E | validated | |
| UMLS | C0265339 | E | validated | |
| GARD | 936 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PHF6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18145 | ENSG00000156531 | 300414 | Xq26.2 | PHD finger protein 6 | 12415272[PMID]_23229552[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 22190899[PMID]_15994862[PMID]_14756673[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001769 | Broad foot | |
| HP:0001836 | Camptodactyly of toe | |
| HP:0000280 | Coarse facial features | |
| HP:0000028 | Cryptorchidism | |
| HP:0008734 | Decreased testicular size | |
| HP:0000771 | Gynecomastia | |
| HP:0000135 | Hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0009748 | Large earlobe | |
| HP:0001831 | Short toe | |
| HP:0000046 | Small scrotum | |
| HP:0008070 | Sparse hair | |
| HP:0001182 | Tapered finger | |
| HP:0001956 | Truncal obesity | |
| Frequent (79-30%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000490 | Deeply set eye | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0000508 | Ptosis | |
| HP:0000574 | Thick eyebrow | |
| Occasional (29-5%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000518 | Cataract | |
| HP:0000365 | Hearing impairment | |
| HP:0001382 | Joint hypermobility | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0000202 | Orofacial cleft | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/127
- This record as JSON: /data/d/127.json