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Killian-Teschler-Nicola syndrome

disorder
SNOMED 9527009CUI C0265449

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.

Apneic episodes in infancy
Always present (100%)HP:0005949
Concave bridge of nose
Always present (100%)HP:0005280
Delayed ability to roll over
Always present (100%)HP:0032989
Disproportionately small hands
Always present (100%)HP:0200055
Fullness around the eyes
Always present (100%)HP:0000629
High forehead
Always present (100%)HP:0000348
Hypoplastic labia
Always present (100%)HP:0000066
Hyporeflexia
Always present (100%)HP:0001265
Laryngomalacia
Always present (100%)HP:0001601
Mental and motor retardation
Always present (100%)HP:0001263
Nasogastric tube feeding
Always present (100%)HP:0040288
Occult spinal dysraphism
Always present (100%)HP:0002144
Oedema of dorsum of feet
Always present (100%)HP:0012098
Poor sucking
Always present (100%)HP:0002033
Sacral dimple
Always present (100%)HP:0000960
Weak cry
Always present (100%)HP:0001612
Big calvaria
Very frequent (80-99%)HP:0000256
Cachexia
Very frequent (80-99%)HP:0004326
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased volume of upper lip
Very frequent (80-99%)HP:0000219
Delayed eruption of teeth
Very frequent (80-99%)HP:0000684
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Downturned corners of mouth
Very frequent (80-99%)HP:0002714
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Eye drop
Very frequent (80-99%)HP:0000508
Full upper lip
Very frequent (80-99%)HP:0000215
Hypotonia, early
Very frequent (80-99%)HP:0008947
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Joint instability
Very frequent (80-99%)HP:0001382

Related Conditions

Anomaly of chromosome pair 12(parent)
Intellectual disability(parent)
Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT
9527009
UMLS CUI
C0265449
Fully Specified Name
Tetrasomy 12p 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.