Overview
Frank-Ter Haar 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.
Bilateral clubfeet
Always present (100%)HP:0001776
Broad, upturned nose
Always present (100%)HP:0000455
Cafe-au-lait spots
Always present (100%)HP:0000957
Central hypotonia
Always present (100%)HP:0001252
Decreased volume of upper lip
Always present (100%)HP:0000219
Enlarged eyeball
Always present (100%)HP:0000557
Hypoplasia of corpus callosum
Always present (100%)HP:0002079
Increased size of palpebral fissures
Always present (100%)HP:0001090
Kyphoscoliosis
Always present (100%)HP:0002751
Large cisterna magna
Always present (100%)HP:0002280
Low-set ears
Always present (100%)HP:0000369
Patent ostium secundum
Always present (100%)HP:0001684
PFO
Always present (100%)HP:0001655
Prominent globes
Always present (100%)HP:0000520
Puffy cheeks
Always present (100%)HP:0000293
Redundant neck skin
Always present (100%)HP:0005989
Wider-than-typical soft spot of skull
Always present (100%)HP:0000260
Brachydactyly
Very frequent (80-99%)HP:0001156
Breakdown of bone
Very frequent (80-99%)HP:0002797
Breaking out
Very frequent (80-99%)HP:0001061
Coarse face
Very frequent (80-99%)HP:0000280
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Death of bone due to decreased blood supply
Very frequent (80-99%)HP:0010885
Decreased height of philtrum
Very frequent (80-99%)HP:0000322
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Delayed motor milestones
Very frequent (80-99%)HP:0001270
Diffusely thickened skin
Very frequent (80-99%)HP:0001072
Enophthalmos
Very frequent (80-99%)HP:0000490
Increased corneal diameter
Very frequent (80-99%)HP:0000485
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Related Conditions
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Skeletal dysplasia(parent)
Developmental delay(parent)
Megalocornea(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the visual system(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 720958002
- UMLS CUI
- C1855305
- Fully Specified Name
- Frank-Ter Haar 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.