Overview
Autosomal recessive cutis laxa type 2B 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.
Bruising susceptibility
Always present (100%)HP:0000978
Bulging forehead
Always present (100%)HP:0011220
Bunion
Always present (100%)HP:0001822
Decreased size of cranium
Always present (100%)HP:0000252
Decreased width of nasal dorsum
Always present (100%)HP:0000418
Dermal translucency
Always present (100%)HP:0010648
Excessive wrinkled skin
Always present (100%)HP:0007392
Fallen arches
Always present (100%)HP:0001763
Fetal foot inversion
Always present (100%)HP:0001762
Hanging skin
Always present (100%)HP:0000973
Increased width of the forehead
Always present (100%)HP:0000337
Joint instability
Always present (100%)HP:0001382
Large, late-closing fontanelle
Always present (100%)HP:0000239
Mental and motor retardation
Always present (100%)HP:0001263
Narrow nose
Always present (100%)HP:0000460
No development of motor milestones
Always present (100%)HP:0001270
Premature sagging cheeks
Always present (100%)HP:0034273
Prominent veins
Always present (100%)HP:0001015
Protruding ear
Always present (100%)HP:0000411
Small for gestational age infant
Always present (100%)HP:0001511
Thin skin
Always present (100%)HP:0000963
Tight skin
Always present (100%)HP:0100679
Tooth hypotrophy
Always present (100%)HP:0000691
Undergrowth
Always present (100%)HP:0001508
Enophthalmos
Very frequent (80-99%)HP:0000490
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Congenital hip dislocations
Frequent (30-79%)HP:0001374
Decreased muscle mass
Frequent (30-79%)HP:0003199
Decreased projection of midface
Frequent (30-79%)HP:0011800
Related Conditions
Metabolic bone disease(parent)
Dysplasia with decreased bone density(parent)
Disorder of proline AND/OR hydroxyproline metabolism(parent)
Hereditary disorder of musculoskeletal system(parent)
Cutis laxa, recessive, type II(parent)
Musculoskeletal and connective tissue disorder(parent)
Congenital anomaly of skin(parent)
Quick Facts
- SNOMED CT
- 778068007
- UMLS CUI
- C2751987
- Fully Specified Name
- Autosomal recessive cutis laxa type 2B (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.