Overview
SOFT 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.
Broad, upturned nose
Always present (100%)HP:0000455
Disproportionately small hands
Always present (100%)HP:0200055
High forehead
Always present (100%)HP:0000348
Increased distance between eyes
Always present (100%)HP:0000316
Increased length of philtrum
Always present (100%)HP:0000343
Inverted triangular face
Always present (100%)HP:0000325
Low birth weight
Always present (100%)HP:0001518
Low-set ears
Always present (100%)HP:0000369
Posteriorly angulated ears
Always present (100%)HP:0000358
Rhizomelic limb shortening
Always present (100%)HP:0008905
Small feet
Always present (100%)HP:0001773
Cognitive delay
Frequent (30-79%)HP:0001263
Undergrowth
Frequent (30-79%)HP:0001508
Central hypotonia
Occasional (5-29%)HP:0001252
Clitoral hypoplasia
Occasional (5-29%)HP:0000060
Dental problems
Occasional (5-29%)HP:0000164
Diabetes mellitus
Occasional (5-29%)HP:0000819
Enophthalmos
Occasional (5-29%)HP:0000490
Generalised decreased muscle tone
Occasional (5-29%)HP:0001290
Neurodevelopmental regression
Occasional (5-29%)HP:0002376
Osteopenia
Occasional (5-29%)HP:0000938
Prominent columella
Occasional (5-29%)HP:0009765
Underdeveloped breasts
Occasional (5-29%)HP:0003187
Brachydactyly
HP:0001156
Bulging forehead
HP:0011220
Cone-shaped epiphyses
HP:0010579
Curvature of digit
HP:0030084
Decreased size of cranium
HP:0000252
Distal phalangeal hypoplasia
HP:0009882
Growth deficiency
HP:0001510
Related Conditions
Multiple malformation syndrome with facial defects as major feature(parent)
Small stature(parent)
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Congenital hypotrichia(parent)
Skeletal dysplasia(parent)
Congenital anomaly of skeletal bone(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Congenital dysplasia of nail unit(parent)
Quick Facts
- SNOMED CT
- 773625007
- UMLS CUI
- C3542022
- Fully Specified Name
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis 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.