Laron-type isolated somatotropin defect

disorder

SNOMED 38196001CUI C0271568

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.

Decreased serum insulin-like growth factor 1

Always present (100%)HP:0030353

Decreased nasal size

Very frequent (80-99%)HP:0009924

Decreased width of tooth

Very frequent (80-99%)HP:0000691

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Dental agenesis

Very frequent (80-99%)HP:0009804

Endocrine system disease

Very frequent (80-99%)HP:0000818

High forehead

Very frequent (80-99%)HP:0000348

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Malformation of face

Very frequent (80-99%)HP:0001999

Retarded ossification

Very frequent (80-99%)HP:0002750

Short stature, severe

Very frequent (80-99%)HP:0003510

Small bridge of nose

Very frequent (80-99%)HP:0005281

Truncal obesity

Very frequent (80-99%)HP:0001956

Abnormality of the elbow

Frequent (30-79%)HP:0009811

Brachydactyly

Frequent (30-79%)HP:0001156

Delayed motor milestones

Frequent (30-79%)HP:0001270

Delayed puberty

Frequent (30-79%)HP:0000823

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Hypoplasia of supraorbital margins

Frequent (30-79%)HP:0009891

Low blood sugar

Frequent (30-79%)HP:0001943

Short toes

Frequent (30-79%)HP:0001831

Abnormality of the skull bones

Occasional (5-29%)HP:0000929

Elevated serum cholesterol

Occasional (5-29%)HP:0003124

Grey sclerae

Occasional (5-29%)HP:0000592

High pitched voice

Occasional (5-29%)HP:0001620

Hypohidrosis

Occasional (5-29%)HP:0000966

Mental-retardation

Occasional (5-29%)HP:0001249

Osteoarthritis

Occasional (5-29%)HP:0002758

Prematurely aged appearance

Occasional (5-29%)HP:0007495

Retruded nasal dorsum

Occasional (5-29%)HP:0000457

Related Conditions

Growth hormone receptor absent(child)

Growth hormone receptor abnormality(child)

Small stature(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 38196001
UMLS CUI: C0271568
Fully Specified Name: Laron-type isolated somatotropin defect (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.