Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome

disorder

SNOMED 774102003CUI C1847522

Overview

Intellectual disability, obesity, prognathism, eye and skin anomalies 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.

Abducens nerve paralysis

Frequent (30-79%)HP:0006897

Blepharophimosis

Frequent (30-79%)HP:0000581

Cone-shaped end part of the toe bones

Frequent (30-79%)HP:0010164

Crowded maxillary incisors

Frequent (30-79%)HP:0006333

Esotropia

Frequent (30-79%)HP:0000565

Eye drop

Frequent (30-79%)HP:0000508

Hyperopic astigmatism

Frequent (30-79%)HP:0000484

Lateral deviation of halluces

Frequent (30-79%)HP:0001822

Mandibular excess

Frequent (30-79%)HP:0000303

Mental retardation, mild

Frequent (30-79%)HP:0001256

Neurodermatitis

Frequent (30-79%)HP:0001047

Obesity

Frequent (30-79%)HP:0001513

Retrognathia of upper jaw

Frequent (30-79%)HP:0000327

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Cone-shaped end part of the 3rd toe bone

Occasional (5-29%)HP:0100057

Cone-shaped epiphyses of the 2nd toe

Occasional (5-29%)HP:0100046

Cone-shaped epiphyses of the 4th toe

Occasional (5-29%)HP:0100068

Global developmental delay, severe

Occasional (5-29%)HP:0011344

Husky voice

Occasional (5-29%)HP:0001609

Hyperactive behaviour

Occasional (5-29%)HP:0000752

Hyperplasia of hypophysial fossa

Occasional (5-29%)HP:0002690

Hyponasal speech

Occasional (5-29%)HP:0100271

Increased intercanthal distance

Occasional (5-29%)HP:0000506

IQ less than 20

Occasional (5-29%)HP:0002187

Large head

Occasional (5-29%)HP:0000256

Squint

Occasional (5-29%)HP:0000486

Cone-shaped epiphyses

HP:0010579

Decreased visual acuity

HP:0007663

Delayed language development

HP:0000750

Inadequate arch length for tooth size

HP:0000678

Related Conditions

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Congenital anomaly of visual system(parent)

Congenital anomaly of skin(parent)

Disorder of eye region(parent)

Developmental hereditary disorder(parent)

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 774102003
UMLS CUI: C1847522
Fully Specified Name: Intellectual disability, obesity, prognathism, eye and skin anomalies 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.