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Menke Hennekam syndrome

disorder
SNOMED 1260095004CUI C5681632

Overview

Menke Hennekam 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.

Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Mental-retardation
Very frequent (80-99%)HP:0001249
Abnormality of the philtrum
Frequent (30-79%)HP:0000288
Autism spectrum disorder
Frequent (30-79%)HP:0000729
Bulging forehead
Frequent (30-79%)HP:0011220
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dental problems
Frequent (30-79%)HP:0000164
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Eye drop
Frequent (30-79%)HP:0000508
Hyperopia
Frequent (30-79%)HP:0000540
Hypoacusis
Frequent (30-79%)HP:0000365
Hypoplasia of columella
Frequent (30-79%)HP:0002000
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Increased length of eyelashes
Frequent (30-79%)HP:0000527
Low-set ears
Frequent (30-79%)HP:0000369
Nasal hypoplasia
Frequent (30-79%)HP:0003196
No development of motor milestones
Frequent (30-79%)HP:0001270
Nostrils anteverted
Frequent (30-79%)HP:0000463
Palpebronasal fold
Frequent (30-79%)HP:0000286
Recurrent URI
Frequent (30-79%)HP:0002788
Slanting of the opening between the eyelids
Frequent (30-79%)HP:0200006
Small for gestational age infant
Frequent (30-79%)HP:0001511
Space between great toe and second toe
Frequent (30-79%)HP:0001852
Squint
Frequent (30-79%)HP:0000486
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
Abnormality of the upper urinary tract
Occasional (5-29%)HP:0010935
Bilateral fifth digit clinodactyly
Occasional (5-29%)HP:0004209
Birth weight less than 10th percentile
Occasional (5-29%)HP:0001518

Related Conditions

Small stature(parent)
Developmental delay(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1260095004
UMLS CUI
C5681632
Fully Specified Name
Menke Hennekam 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.