BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome

disorder

SNOMED 403796005CUI C3495483

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Brittle hair

Always present (100%)HP:0002299

Dull intelligence

Always present (100%)HP:0001249

Dystrophic nails

Always present (100%)HP:0008404

Growth deficiency

Always present (100%)HP:0001510

Mental and motor retardation

Always present (100%)HP:0001263

Trichorrhexis nodosa

Always present (100%)HP:0009886

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Cornea of eye less than 10mm in diameter

Occasional (5-29%)HP:0000482

Dry eye syndrome

Occasional (5-29%)HP:0001097

Hypoplastic teeth

Occasional (5-29%)HP:0000685

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Nanophthalmos

Occasional (5-29%)HP:0000568

Nasal hypoplasia

Occasional (5-29%)HP:0003196

Nostrils anteverted

Occasional (5-29%)HP:0000463

Optic atrophy

Occasional (5-29%)HP:0000648

Palpebronasal fold

Occasional (5-29%)HP:0000286

Partial or complete agenesis of corpus callosum

Occasional (5-29%)HP:0001338

Retrognathia

Occasional (5-29%)HP:0000278

Severe muscular hypotonia

Occasional (5-29%)HP:0006829

VSD

Occasional (5-29%)HP:0001629

Abnormality of hair curl pattern

HP:0010719

Concave nail

HP:0001598

Decreased fertility

HP:0000144

Decreased hair growth

HP:0008070

Decreased size of cranium

HP:0000252

Kinky hair texture

HP:0002224

Macrotia

HP:0000400

Nail dysplasia

HP:0002164

Small nail

HP:0001792

Thin eyelashes

HP:0000653

Related Conditions

Trichothiodystrophy(parent)

Quick Facts

SNOMED CT: 403796005
UMLS CUI: C3495483
Fully Specified Name: Brittle hair-impaired intellect-decreased fertility-short stature 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.