Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal skin colour
Very frequent (80-99%)HP:0001000
Atrophy of fat
Very frequent (80-99%)HP:0100578
Body fails to respond to insulin
Very frequent (80-99%)HP:0000855
Contractures of the large joints
Very frequent (80-99%)HP:0005781
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
High arched palate
Very frequent (80-99%)HP:0000218
Hyperinsulinemia
Very frequent (80-99%)HP:0000842
Hyperplasia of cheeks
Very frequent (80-99%)HP:0000293
Increased fat around the neck
Very frequent (80-99%)HP:0000468
Loss of subcutaneous adipose tissue from extremities
Very frequent (80-99%)HP:0003635
Narrow nose
Very frequent (80-99%)HP:0000460
Thin skin
Very frequent (80-99%)HP:0000963
Abnormal tongue morphology
Frequent (30-79%)HP:0030809
Acanthosis nigricans
Frequent (30-79%)HP:0000956
Acro-osteolysis of distal phalanges
Frequent (30-79%)HP:0009839
Acroosteolysis of distal phalanges (feet)
Frequent (30-79%)HP:0001870
Decreased size of teeth
Frequent (30-79%)HP:0000685
Delayed closure of the fontanelles
Frequent (30-79%)HP:0000270
Dental crowding
Frequent (30-79%)HP:0000678
Elevated total cholesterol
Frequent (30-79%)HP:0003124
Facial shape compression
Frequent (30-79%)HP:0011334
Glucose intolerance
Frequent (30-79%)HP:0001952
Growth delay as children
Frequent (30-79%)HP:0008897
Hair loss
Frequent (30-79%)HP:0001596
Hypotrichosis
Frequent (30-79%)HP:0008070
Increased circulating free fatty acid level
Frequent (30-79%)HP:0030781
Increased intraabdominal fat
Frequent (30-79%)HP:0008993
Increased subcutaneous truncal adipose tissue
Frequent (30-79%)HP:0009003
Increased triglycerides
Frequent (30-79%)HP:0002155
Insulin-resistant diabetes
Frequent (30-79%)HP:0000831
Related Conditions
Mandibuloacral dysostosis co-occurrent with type A lipodystrophy(child)
Mandibuloacral dysostosis co-occurrent with type B lipodystrophy(child)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Dysostosis(parent)
Hereditary disorder of musculoskeletal system(parent)
Connective tissue hereditary disorder(parent)
Congenital anomaly of mandible(parent)
Lesion of face(parent)
Subcutaneous fat disorder(parent)
Congenital anomaly of subcutaneous tissue(parent)
Congenital deformity of clavicle(parent)
Longitudinal deficiency of part of upper limb(parent)
Musculoskeletal and connective tissue disorder(parent)
Congenital connective tissue disorder(parent)
Lipoatrophy(parent)
Developmental hereditary disorder(parent)
Abnormally short long bone(parent)
Quick Facts
- SNOMED CT
- 109419009
- UMLS CUI
- C0432291
- Fully Specified Name
- Mandibuloacral dysostosis (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.