Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypoplastic/small little finger
Always present (100%)HP:0009237
Abnormality of the uterus
Very frequent (80-99%)HP:0000130
Attachment of thumb close to wrist
Very frequent (80-99%)HP:0009623
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
First metatarsal hypoplasia
Very frequent (80-99%)HP:0010105
Fusion of wrist bones
Very frequent (80-99%)HP:0005048
Heart shaped uterus
Very frequent (80-99%)HP:0000813
Short hallux
Very frequent (80-99%)HP:0010109
Shortened 1st long bone of hand
Very frequent (80-99%)HP:0010034
Shortening of all middle phalanges of the fingers
Very frequent (80-99%)HP:0006110
Thumb hypoplasia
Very frequent (80-99%)HP:0009778
Ureteropelvic junction obstruction
Very frequent (80-99%)HP:0000074
Abnormal dermatoglyphics
Frequent (30-79%)HP:0007477
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Hypospadias
Frequent (30-79%)HP:0000047
Medially deviated halluces
Frequent (30-79%)HP:0008080
Repeated bladder infections
Frequent (30-79%)HP:0000010
Small fifth toenail
Frequent (30-79%)HP:0011937
Urethra issue
Frequent (30-79%)HP:0000795
VUR
Frequent (30-79%)HP:0000076
Microtia
Occasional (5-29%)HP:0008551
Postaxial hand polydactyly
Occasional (5-29%)HP:0001162
Sacral dimple
Occasional (5-29%)HP:0000960
Squint
Occasional (5-29%)HP:0000486
VSD
Occasional (5-29%)HP:0001629
Brachydactyly
HP:0001156
Chordee
HP:0000041
Decreased thenar eminence
HP:0001245
Delayed ankle bone maturation
HP:0008103
Delayed ossification of carpal bones
HP:0001216
Related Conditions
Autosomal dominant hereditary disorder(parent)
Congenital abnormality of hand and digits(parent)
Congenital deformity and malformation of feet and toes(parent)
Hereditary disorder by system(parent)
Brachydactyly(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Genitourinary congenital anomalies(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 702425002
- UMLS CUI
- C1841679
- Fully Specified Name
- Hand-foot-genital 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.