Pallister-Hall syndrome

disorder

SNOMED 56677004CUI C0265220

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.

Hypothalamic hamartoma

Always present (100%)HP:0002444

Postaxial hexadactyly

Very frequent (80-99%)HP:0100259

Shortening of all outermost bones of the fingers

Very frequent (80-99%)HP:0006118

Y-shaped metacarpals

Very frequent (80-99%)HP:0006042

Y-shaped metatarsals

Very frequent (80-99%)HP:0010567

3-4 finger cutaneous syndactyly

Frequent (30-79%)HP:0011939

Abnormal basal ganglia MRI signal intensity

Frequent (30-79%)HP:0012751

Abnormal prolactin level

Frequent (30-79%)HP:0040086

Abnormally small eyeball

Frequent (30-79%)HP:0000568

ACTH deficiency

Frequent (30-79%)HP:0011748

Anal atresia

Frequent (30-79%)HP:0002023

Bilateral postaxial polydactyly

Frequent (30-79%)HP:0006136

Brachydactyly

Frequent (30-79%)HP:0001156

Broad thumbs

Frequent (30-79%)HP:0011304

Central adrenal insufficiency

Frequent (30-79%)HP:0011734

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Extra long bones of hand

Frequent (30-79%)HP:0005917

Extra oral frenum

Frequent (30-79%)HP:0000191

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hypopituitarism

Frequent (30-79%)HP:0040075

Hypoplastic fourth metacarpal

Frequent (30-79%)HP:0010044

Increased distance between eyes

Frequent (30-79%)HP:0000316

Insertional polydactyly

Frequent (30-79%)HP:0100260

Large head

Frequent (30-79%)HP:0000256

Laryngotracheal cleft

Frequent (30-79%)HP:0008751

Microtia

Frequent (30-79%)HP:0008551

Nail dysplasia

Frequent (30-79%)HP:0002164

Nostrils anteverted

Frequent (30-79%)HP:0000463

Pituitary gonadotropin deficiency

Frequent (30-79%)HP:0008213

Related Conditions

Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)

Quick Facts

SNOMED CT: 56677004
UMLS CUI: C0265220
Fully Specified Name: Pallister-Hall 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.