Congenital contracture of limbs and face, hypotonia, developmental delay syndrome

disorder

SNOMED 1255322002CUI C4225398

Overview

Congenital contracture of limbs and face, hypotonia, developmental delay 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.

Arthrogryposis multiplex

Very frequent (80-99%)HP:0002804

Camptodactyly

Very frequent (80-99%)HP:0012385

Deep nasolabial crease

Very frequent (80-99%)HP:0005272

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Puffy cheeks

Very frequent (80-99%)HP:0000293

Respiratory distress, neonatal

Very frequent (80-99%)HP:0002643

Abnormal respiratory patterns

Frequent (30-79%)HP:0002793

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Cognitive delay

Frequent (30-79%)HP:0001263

Columella, short

Frequent (30-79%)HP:0002000

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Delayed motor milestones

Frequent (30-79%)HP:0001270

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Flexion contractures

Frequent (30-79%)HP:0001371

Flexion contractures of hips

Frequent (30-79%)HP:0003273

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

H-shaped dimple of the chin

Frequent (30-79%)HP:0011824

Hernia

Frequent (30-79%)HP:0100790

Inability to straighten knee

Frequent (30-79%)HP:0006380

Increased length of philtrum

Frequent (30-79%)HP:0000343

Infratentorial atrophy

Frequent (30-79%)HP:0001272

Inguinal hernia

Frequent (30-79%)HP:0000023

Naris, broad

Frequent (30-79%)HP:0009931

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Poor school performance

Frequent (30-79%)HP:0001249

Pursed lips

Frequent (30-79%)HP:0000205

Short neck

Frequent (30-79%)HP:0000470

Related Conditions

Global developmental delay(parent)

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

Distal arthrogryposis syndrome(parent)

Congenital deformity of face(parent)

Disease of skeletal muscle(parent)

Lesion of face(parent)

Congenital anomaly of joint(parent)

Congenital deformity of musculoskeletal system(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1255322002
UMLS CUI: C4225398
Fully Specified Name: Congenital contracture of limbs and face, hypotonia, developmental delay 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.