Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Very frequent (80-99%)HP:0004322
Mesomelia
Very frequent (80-99%)HP:0003027
shortened long tubular bones
Very frequent (80-99%)HP:0003026
Acromesomelia
Frequent (30-79%)HP:0003086
Birth weight less than 10th percentile
Frequent (30-79%)HP:0001518
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Flat facial shape
Frequent (30-79%)HP:0012368
Hypogenitalism
Frequent (30-79%)HP:0003241
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Increased distance between eyes
Frequent (30-79%)HP:0000316
Limited elbow extension and supination
Frequent (30-79%)HP:0005852
Mesomelia of the upper limbs
Frequent (30-79%)HP:0005011
Palpebronasal fold
Frequent (30-79%)HP:0000286
Radial head dislocation
Frequent (30-79%)HP:0003083
Sacral dimple
Frequent (30-79%)HP:0000960
Short lingual frenum
Frequent (30-79%)HP:0000200
Wider-than-typical soft spot of skull
Frequent (30-79%)HP:0000260
Abnormality of position of teeth
Occasional (5-29%)HP:0000692
Angle class 3 malocclusion
Occasional (5-29%)HP:0000689
Aortic coarctation
Occasional (5-29%)HP:0001680
Atria septal defect
Occasional (5-29%)HP:0001631
Brachydactyly
Occasional (5-29%)HP:0001156
Broad alveolar processes of jaw
Occasional (5-29%)HP:0000187
Broad, upturned nose
Occasional (5-29%)HP:0000455
Cardiac anomaly
Occasional (5-29%)HP:0001627
Clitoral hypoplasia
Occasional (5-29%)HP:0000060
Concave bridge of nose
Occasional (5-29%)HP:0005280
Cryptorchidism
Occasional (5-29%)HP:0000028
Decreased projection of lower jaw
Occasional (5-29%)HP:0000347
Dislocated radioulnar joints
Occasional (5-29%)HP:0006439
Related Conditions
Autosomal dominant Robinow syndrome(child)
Autosomal recessive Robinow syndrome(child)
Autosomal hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Mesomelic dysplasia(parent)
Developmental hereditary disorder(parent)
Congenital malformation of genital organs(parent)
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Reproductive system hereditary disorder(parent)
Disorder of pelvic region of trunk(parent)
Quick Facts
- SNOMED CT
- 76520005
- UMLS CUI
- C0265205
- Fully Specified Name
- Robinow 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.