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Borjeson-Forssman-Lehmann syndrome

disorder
SNOMED 21634003CUI C0265339

Overview

Borjeson-Forssman-Lehmann syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Broad foot
Very frequent (80-99%)HP:0001769
Camptodactyly of feet
Very frequent (80-99%)HP:0001836
Central hypotonia
Very frequent (80-99%)HP:0001252
Cryptorchidism
Very frequent (80-99%)HP:0000028
Decreased activity of gonads
Very frequent (80-99%)HP:0000135
Decreased testicular size
Very frequent (80-99%)HP:0008734
Dull intelligence
Very frequent (80-99%)HP:0001249
Gynaecomastia
Very frequent (80-99%)HP:0000771
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Prominent ear lobes
Very frequent (80-99%)HP:0009748
Short toes
Very frequent (80-99%)HP:0001831
Smaller than typical growth of scrotum
Very frequent (80-99%)HP:0000046
Tapering fingers
Very frequent (80-99%)HP:0001182
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Thin, sparse hair
Very frequent (80-99%)HP:0008070
Truncal obesity
Very frequent (80-99%)HP:0001956
Blepharophimosis
Frequent (30-79%)HP:0000581
Deep set eye
Frequent (30-79%)HP:0000490
Eye drop
Frequent (30-79%)HP:0000508
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Hyperplasia of supraorbital margins
Frequent (30-79%)HP:0000336
Thick eyebrow
Frequent (30-79%)HP:0000574
Abnormality of the hips
Occasional (5-29%)HP:0003272
Big calvaria
Occasional (5-29%)HP:0000256
Cataract
Occasional (5-29%)HP:0000518
Decreased body height
Occasional (5-29%)HP:0004322
Decreased size of cranium
Occasional (5-29%)HP:0000252
Hearing impairment
Occasional (5-29%)HP:0000365
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Ligamentous laxity
Occasional (5-29%)HP:0001382

Related Conditions

Multiple system malformation syndrome(parent)
Hereditary disorder of nervous system(parent)
Congenital anomaly of brain(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
21634003
UMLS CUI
C0265339
Fully Specified Name
Borjeson-Forssman-Lehmann syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.