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Keratosis follicularis, dwarfism, cerebral atrophy syndrome

disorder
SNOMED 723830005CUI C4510086

Overview

Keratosis follicularis, dwarfism, cerebral atrophy 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.

Absent eyebrows
Frequent (30-79%)HP:0002223
Absent eyelashes
Frequent (30-79%)HP:0000561
Decreased size of cranium
Frequent (30-79%)HP:0000252
Generalised keratosis follicularis
Frequent (30-79%)HP:0007439
Short stature, severe
Frequent (30-79%)HP:0003510
Supratentorial atrophy
Frequent (30-79%)HP:0002059

Related Conditions

Multiple system malformation syndrome(parent)
Small stature(parent)
Cerebral atrophy(parent)
Hereditary acantholytic dermatosis(parent)
Follicular keratosis(parent)
Congenital anomaly of cerebrum(parent)
Congenital degeneration of nervous system(parent)
Hereditary degenerative disease of central nervous system(parent)
X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT
723830005
UMLS CUI
C4510086
Fully Specified Name
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
6
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.