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Christ-Siemens-Touraine syndrome

disorder
SNOMED 239007005CUI C0162359

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.

Agenesis of eyebrows
Always present (100%)HP:0002223
Concave bridge of nose
Always present (100%)HP:0005280
Constipation
Always present (100%)HP:0002019
Dark circles under the eyes
Always present (100%)HP:0001106
Dry skin
Always present (100%)HP:0000958
Fine hair
Always present (100%)HP:0002213
Missing between one and six teeth
Always present (100%)HP:0000668
Prominent lips
Always present (100%)HP:0012471
Protruding forehead
Always present (100%)HP:0011220
Pyrexia
Always present (100%)HP:0001945
Wrinkles around the eyes
Always present (100%)HP:0000607
Absence of eyebrow
Very frequent (80-99%)HP:0100840
Decreased hair growth
Very frequent (80-99%)HP:0008070
Decreased sweating
Very frequent (80-99%)HP:0000966
Delayed eruption of teeth
Very frequent (80-99%)HP:0000684
Eclabium of upper lip
Very frequent (80-99%)HP:0010803
Protruding lower lip
Very frequent (80-99%)HP:0000232
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Sparse body hair
Very frequent (80-99%)HP:0002231
Tooth hypoplasia
Very frequent (80-99%)HP:0000691
Anterior hypopituitarism
Occasional (5-29%)HP:0000830
Distal phalangeal hypoplasia
Occasional (5-29%)HP:0009882
High blood pressure
Occasional (5-29%)HP:0000822
Type I diabetes mellitus
Occasional (5-29%)HP:0100651
Abnormal oral mucosa morphology
HP:0011830
Absent nipples
HP:0002561
Aplasia/Hypoplasia of the eccrine sweat glands
HP:0007592
Concave nail
HP:0001598
Dysphonia
HP:0001618
Eczema
HP:0000964

Related Conditions

X-linked hereditary disease(parent)
Ectodermal dysplasia with hair-tooth-nail-sweating defect(parent)
Hereditary disorder of the integument(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)

Quick Facts

SNOMED CT
239007005
UMLS CUI
C0162359
Fully Specified Name
Hypohidrotic X-linked ectodermal dysplasia (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.