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Hartsfield syndrome

disorder
SNOMED 766032007CUI C1845146

Overview

Hartsfield 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.

Absence of corpus callosum
Always present (100%)HP:0001274
Growth deficiency
Always present (100%)HP:0001510
Mental and motor retardation
Always present (100%)HP:0001263
Bifid skull
Very frequent (80-99%)HP:0002084
Cleft of palate
Very frequent (80-99%)HP:0000175
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Decreased size of eyeball
Very frequent (80-99%)HP:0000568
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Ectrodactyly
Very frequent (80-99%)HP:0100257
Eye drop
Very frequent (80-99%)HP:0000508
Hypoplastic or absent corpus callosum
Very frequent (80-99%)HP:0007370
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Lobar holoprosencephaly
Very frequent (80-99%)HP:0006870
Non-midline cleft of the upper lip
Very frequent (80-99%)HP:0100335
Respiratory function loss
Very frequent (80-99%)HP:0002093
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Absent/underdeveloped radius
Frequent (30-79%)HP:0006501
Cleft of upper lip
Frequent (30-79%)HP:0000204
Cryptorchidism
Frequent (30-79%)HP:0000028
Short penis
Frequent (30-79%)HP:0000054
Split hand
Frequent (30-79%)HP:0001171
Alobar holoprosencephaly
Occasional (5-29%)HP:0006988
Deformity of the skull
Occasional (5-29%)HP:0001363
Generalized tonic-clonic seizure (without specification of onset)
Occasional (5-29%)HP:0002069
Midline cleft lip
Occasional (5-29%)HP:0000161
Ocular hypotelorism
Occasional (5-29%)HP:0000601
Semilobar holoprosencephaly
Occasional (5-29%)HP:0002507
Decreased size of cranium
HP:0000252
Diabetes insipidus
HP:0000873

Related Conditions

Autosomal hereditary disorder(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Holoprosencephaly sequence(parent)
Ectrodactyly(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
766032007
UMLS CUI
C1845146
Fully Specified Name
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate 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.