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.
class Information
definition_citation
Orphanet
has_age_of_onset
Neonatal
has_dbxref
- ICD-10:Q87.8
- ICD-11:LD29
- MeSH:C536575
- OMIM:301900
- UMLS:C0265339
has_inheritance
X-linked recessive
notation
present_in
- Worldwide AND has_point_prevalence_range : <1 / 1 000 000
- Worldwide AND has_cases/families_value : 50.0 (Case(s))
class Relations
Subclass of
- Malformation syndrome
- disorder
- part ofrosomeMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- part ofrosomeMonogenic disease with epilepsy
- part ofrosomeSyndromic obesity
- part ofrosomeGenetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- part ofrosomeRare disorder with ptosis
Related from
disease-causing germline mutation(s) (loss of function) in