Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Synonyms: Niikawa-Kuroki syndrome Kabuki make-up syndrome
This is just here as a test because I lose it
Term information
database cross reference
- MeSH:C537705 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q87.0 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- MedDRA:10063935 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C0796004 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q87.0 (Attributed (The ICD10 code is attributed by Orphanet))
- OMIM:147920 (E (Exact mapping: the two concepts are equivalent))
- OMIM:300867 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
Term relations
Subclass of:
- malformation syndrome
- part_of some Syndromic diaphragmatic or abdominal wall malformation
- has_inheritance some not genetically inherited
- part_of some Rare genetic syndromic intellectual disability
- part_of some Rare syndromic intellectual disability
- part_of some Malformation syndrome with short stature
- present_in some New Zealand and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 1.16
- present_in some Australia and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 1.16
- part_of some Syndromic anorectal malformation
- part_of some Congenital ectropion
- part_of some Genetic malformation syndrome with short stature
- has_inheritance some autosomal dominant
- has_age_of_onset some infancy
- part_of some Syndromic diaphragmatic or thoracic malformation
- present_in some Japan and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 3.1
- present_in some Europe and has_point_prevalence_range some 1-9 / 100 000 and has_point_prevalence_average_value value 3.1
- has_age_of_onset some neonatal
- part_of some Multiple congenital anomalies/dysmorphic syndrome-intellectual disability