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Pitt-Hopkins syndrome

disorder
SNOMED 702344008CUI C1970431

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.

Depressed philtrum
Always present (100%)HP:0002002
Flared nostrils
Always present (100%)HP:0000454
Medial thinning of eyebrow
Always present (100%)HP:0025325
Mental retardation, severe
Always present (100%)HP:0010864
Postnatal microcephaly
Always present (100%)HP:0005484
Repetitive behaviour Stereotypic behaviour
Always present (100%)HP:0000733
Wide-spaced teeth
Always present (100%)HP:0000687
Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Ataxia
Very frequent (80-99%)HP:0001251
Broad fingertip
Very frequent (80-99%)HP:0011300
Central hypotonia
Very frequent (80-99%)HP:0001252
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased height of philtrum
Very frequent (80-99%)HP:0000322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Deep set eye
Very frequent (80-99%)HP:0000490
Difficulty finding words
Very frequent (80-99%)HP:0002381
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Dyschezia
Very frequent (80-99%)HP:0002019
Echologia
Very frequent (80-99%)HP:0010529
Episodic hyperventilation
Very frequent (80-99%)HP:0004879
Esophagitis
Very frequent (80-99%)HP:0100633
Failure of eruption of permanent teeth
Very frequent (80-99%)HP:0006352
Fallen arches
Very frequent (80-99%)HP:0001763
Feeding difficulties
Very frequent (80-99%)HP:0011968
Finger clinodactyly
Very frequent (80-99%)HP:0040019
Gastroesophageal reflux disease
Very frequent (80-99%)HP:0002020
Helix abnormal
Very frequent (80-99%)HP:0011039
Large mouth
Very frequent (80-99%)HP:0000154
Mental-retardation
Very frequent (80-99%)HP:0001249
Misalignment of teeth
Very frequent (80-99%)HP:0000692

Related Conditions

Autosomal dominant hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Seizure disorder(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
702344008
UMLS CUI
C1970431
Fully Specified Name
Pitt-Hopkins 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.