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Cutis laxa-corneal clouding-oligophrenia syndrome
disorderSNOMED 59252009CUI C0268354
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Athetoid movements
Very frequent (80-99%)HP:0002305
Congenital hip dislocations
Very frequent (80-99%)HP:0001374
Corneal opacity
Very frequent (80-99%)HP:0007957
Coxa vara
Very frequent (80-99%)HP:0002812
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased fetal movement
Very frequent (80-99%)HP:0001558
Decreased muscle mass
Very frequent (80-99%)HP:0003199
Deep nasolabial crease
Very frequent (80-99%)HP:0005272
Deep set eye
Very frequent (80-99%)HP:0000490
Delayed eruption of teeth
Very frequent (80-99%)HP:0000684
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Dermal translucency
Very frequent (80-99%)HP:0010648
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Extra bones within cranial sutures
Very frequent (80-99%)HP:0002645
Foot, talipes equinovarus
Very frequent (80-99%)HP:0001762
Fragmented elastic fibers in the dermis
Very frequent (80-99%)HP:0025167
Generalized elastolysis
Very frequent (80-99%)HP:0000973
Generalized joint laxity
Very frequent (80-99%)HP:0002761
Growth delay as children
Very frequent (80-99%)HP:0008897
High arched palate
Very frequent (80-99%)HP:0000218
Hypernasal voice
Very frequent (80-99%)HP:0001611
Hypotonia, early
Very frequent (80-99%)HP:0008947
Inability to make and keep healthy fat tissue
Very frequent (80-99%)HP:0009125
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased reflexes
Very frequent (80-99%)HP:0001347
Inguinal hernia
Very frequent (80-99%)HP:0000023
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Low-set ears
Very frequent (80-99%)HP:0000369
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Related Conditions
Neurocutaneous syndrome Bicknell type(child)
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome(child)
Cutis laxa, autosomal recessive(parent)
Hereditary disorder of the visual system(parent)
Congenital corneal opacity(parent)
Developmental delay(parent)
Hereditary disorder of musculoskeletal system(parent)
Musculoskeletal and connective tissue disorder(parent)
Arthropathy(parent)
Disorder of proline AND/OR hydroxyproline metabolism(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Fetal and/or neonatal disorder of integument(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 59252009
- UMLS CUI
- C0268354
- Fully Specified Name
- de Barsey 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.