Intellectual disability, facial dysmorphism, hand anomalies syndrome

disorder

SNOMED 773416006CUI C4750848

Overview

Intellectual disability, facial dysmorphism, hand 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.

Broad, upturned nose

Frequent (30-79%)HP:0000455

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Moderate mental retardation

Frequent (30-79%)HP:0002342

Short palpebral fissure

Frequent (30-79%)HP:0012745

Specific learning disability

Frequent (30-79%)HP:0001328

Speech difficulties

Frequent (30-79%)HP:0000750

Wide chin

Frequent (30-79%)HP:0011822

3-4 finger cutaneous syndactyly

Occasional (5-29%)HP:0011939

Anomaly of scalp

Occasional (5-29%)HP:0001965

Brachydactyly

Occasional (5-29%)HP:0001156

Broad thumbs

Occasional (5-29%)HP:0011304

Curved distal phalanx of the thumb

Occasional (5-29%)HP:0009644

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Difficulty speaking

Occasional (5-29%)HP:0002465

Distal phalangeal hypoplasia

Occasional (5-29%)HP:0009882

Facial grimacing

Occasional (5-29%)HP:0000273

Gait disturbance

Occasional (5-29%)HP:0001288

Hypoplastic toenails

Occasional (5-29%)HP:0001800

Klippel-Feil syndrome

Occasional (5-29%)HP:0004602

Moderate hearing impairment

Occasional (5-29%)HP:0012713

Notched outermost bone of thumb

Occasional (5-29%)HP:0009611

Osseous syndactyly of the fingers

Occasional (5-29%)HP:0010492

Overweight

Occasional (5-29%)HP:0025502

Recurrent middle ear infection

Occasional (5-29%)HP:0000403

Short 5th metacarpal

Occasional (5-29%)HP:0010047

Short distal phalanx of the thumb

Occasional (5-29%)HP:0009650

Short third metacarpals

Occasional (5-29%)HP:0010041

Short toes

Occasional (5-29%)HP:0001831

Single flexion crease

Occasional (5-29%)HP:0000954

Related Conditions

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

Recessive hereditary disorder (autosomal)(parent)

Congenital abnormality of hand and digits(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773416006
UMLS CUI: C4750848
Fully Specified Name: Intellectual disability, facial dysmorphism, hand 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.