← Back to Conditions

Craniofacial dysplasia osteopenia syndrome

disorder
SNOMED 773622005CUI C1970027

Overview

Craniofacial dysplasia osteopenia 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.

Abnormal formation of the hip
Always present (100%)HP:0001385
Bilateral crossbite
Always present (100%)HP:0000689
Blepharophimosis
Always present (100%)HP:0000581
Cryptorchidism
Always present (100%)HP:0000028
Eclabium of lower lip
Always present (100%)HP:0000232
Enamel, underdeveloped
Always present (100%)HP:0006297
Flat philtrum
Always present (100%)HP:0000319
High arched palate
Always present (100%)HP:0000218
Hypochromic anemia
Always present (100%)HP:0001931
Hypotrichosis
Always present (100%)HP:0008070
Increased distance between eyes
Always present (100%)HP:0000316
Increased fracture rate
Always present (100%)HP:0002757
Increased intercanthal distance
Always present (100%)HP:0000506
Increased length of philtrum
Always present (100%)HP:0000343
Increased width of bridge of nose
Always present (100%)HP:0000431
Large mouth
Always present (100%)HP:0000154
Laterally sparse eyebrows
Always present (100%)HP:0005338
Low intelligence
Always present (100%)HP:0001249
Low posterior hair line
Always present (100%)HP:0002162
Low-set ears
Always present (100%)HP:0000369
Microcytic anemia
Always present (100%)HP:0001935
Midfacial prominence
Always present (100%)HP:0012371
Missing between one and six teeth
Always present (100%)HP:0000668
Nostrils anteverted
Always present (100%)HP:0000463
Psychomotor development deficiency
Always present (100%)HP:0001263
Psychomotor retardation, moderate
Always present (100%)HP:0011343
Sensorineural deafness
Always present (100%)HP:0000407
Sparse eyebrow
Always present (100%)HP:0045075
Supernumary hair swirls
Always present (100%)HP:0010813
Syndactyly
Always present (100%)HP:0001159

Related Conditions

Recessive hereditary disorder (autosomal)(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Osteopenia(parent)
Congenital anomaly of skull(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
773622005
UMLS CUI
C1970027
Fully Specified Name
Craniofacial dysplasia osteopenia 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.