A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed.
Synonyms: Kabuki make-up syndrome Niikawa-Kuroki syndrome
This is just here as a test because I lose it
Term information
database cross reference
- UMLS:C0796004 (E (Exact mapping: the two concepts are equivalent))
- MeSH:C537705 (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))
- MedDRA:10063935 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q87.0 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- 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 antenatal
- 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