Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome

disorder

SNOMED 721843003CUI C0406723

Overview

Growth retardation, alopecia, pseudoanodontia, optic atrophy 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.

Boxer's nose deformity

Always present (100%)HP:0011120

Eruption failure

Always present (100%)HP:0000706

Eyelid thickening

Always present (100%)HP:0030939

Full lower lip

Always present (100%)HP:0000179

Hypertrophy of supraorbital ridge

Always present (100%)HP:0000336

Increased corneal diameter

Always present (100%)HP:0000485

Persistent anterior fontanelle

Always present (100%)HP:0001476

Prominent lips

Always present (100%)HP:0012471

Shallow eye sockets

Always present (100%)HP:0000586

Short and narrow face

Always present (100%)HP:0000274

Short stature, severe

Always present (100%)HP:0003510

Small nose

Always present (100%)HP:0003196

Squint

Always present (100%)HP:0000486

Thin, sparse hair

Always present (100%)HP:0008070

Thinning scalp hair

Always present (100%)HP:0002209

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of midface

Very frequent (80-99%)HP:0011800

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Depressed nasal root/bridge

Very frequent (80-99%)HP:0005280

Early balding

Very frequent (80-99%)HP:0002234

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hair loss

Very frequent (80-99%)HP:0001596

High forehead

Very frequent (80-99%)HP:0000348

Hypoplasia of supraorbital margins

Very frequent (80-99%)HP:0009891

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Ligamentous laxity

Very frequent (80-99%)HP:0001382

Low-set ears

Very frequent (80-99%)HP:0000369

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

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

Small stature(parent)

Ectodermal dysplasia with hair-tooth defects(parent)

Inherited optic neuropathy(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

False anodontia(parent)

Teeth malformation(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 721843003
UMLS CUI: C0406723
Fully Specified Name: Growth retardation, alopecia, pseudoanodontia, optic atrophy 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.