Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Abnormality of prenatal development or birth
Occasional (5-29%)HP:0001197
Aplasia/Hypoplasia of the nails
Occasional (5-29%)HP:0008386
Baldness
Occasional (5-29%)HP:0002293
Bilateral microphthalmos
Occasional (5-29%)HP:0007633
Bilateral nerve deafness
Occasional (5-29%)HP:0008619
Bird-like facial appearance
Occasional (5-29%)HP:0000320
Brittle hair
Occasional (5-29%)HP:0002299
Bronchospasm
Occasional (5-29%)HP:4000007
Cerebral cortex atrophy
Occasional (5-29%)HP:0002120
Concave nail
Occasional (5-29%)HP:0001598
Congenital cataracts, bilateral
Occasional (5-29%)HP:0000519
Congenital exfoliative erythroderma
Occasional (5-29%)HP:0007381
Conjunctivitis
Occasional (5-29%)HP:0000509
Corticospinal signs
Occasional (5-29%)HP:0007256
Cryptorchidism
Occasional (5-29%)HP:0000028
Cutaneous photosensitivity
Occasional (5-29%)HP:0000992
Decreased corneal diameter
Occasional (5-29%)HP:0000482
Decreased size of cranium
Occasional (5-29%)HP:0000252
Defective DNA repair after ultraviolet radiation damage
Occasional (5-29%)HP:0003079
Deformity of the skull
Occasional (5-29%)HP:0001363
Dermatitis
Occasional (5-29%)HP:0000964
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Diffuse cerebellar atrophy
Occasional (5-29%)HP:0100275
Digital clubbing
Occasional (5-29%)HP:0001217
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Dysphonia
Occasional (5-29%)HP:0001618
Dystrophic fingernails
Occasional (5-29%)HP:0008391
Enamel, underdeveloped
Occasional (5-29%)HP:0006297
Related Conditions
Clastothrix(child)
PIBIDS syndrome, photosensitivity with IBIDS(child)
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome(child)
Onycho-tricho-dysplasia neutropenia syndrome(child)
Sabinas brittle hair syndrome(child)
Ectodermal dysplasia(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Genetic defect of hair shaft(parent)
Developmental hereditary disorder(parent)
Congenital anomaly of hair(parent)
Quick Facts
- SNOMED CT
- 723551003
- UMLS CUI
- C1955934
- Fully Specified Name
- Trichothiodystrophy (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.