Brachytelephalangic chondrodysplasia punctata

disorder

SNOMED 778067002CUI C1844853

Overview

Brachytelephalangic chondrodysplasia punctata 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.

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Small upper jaw

Very frequent (80-99%)HP:0000327

Abnormality of the vertebral column

Frequent (30-79%)HP:0000925

Broad, upturned nose

Frequent (30-79%)HP:0000455

Decreased length of anterior nasal spine

Frequent (30-79%)HP:0010666

Growth delay as children

Frequent (30-79%)HP:0008897

Hearing loss, mixed

Frequent (30-79%)HP:0000410

Hypoplasia of columella

Frequent (30-79%)HP:0002000

Punctate vertebral calcifications

Frequent (30-79%)HP:0008420

Retruded nasal dorsum

Frequent (30-79%)HP:0000457

Short distal phalanx of toe

Frequent (30-79%)HP:0001857

Short stature, proportionate

Frequent (30-79%)HP:0003508

Stippling of the epiphyses

Frequent (30-79%)HP:0010655

Abnormal hyoid bone morphology

Occasional (5-29%)HP:3000052

Abnormal ossification involving the femoral head and neck

Occasional (5-29%)HP:0009107

Abnormality of the bronchi

Occasional (5-29%)HP:0025426

Atlantoaxial instability

Occasional (5-29%)HP:0003467

C1-C2 subluxation

Occasional (5-29%)HP:0003320

Calcaneal epiphyseal stippling

Occasional (5-29%)HP:0004695

Calcification of the trachea

Occasional (5-29%)HP:0002787

Central apnoea

Occasional (5-29%)HP:0002871

Cervical cord compression

Occasional (5-29%)HP:0002341

Cervical kyphosis

Occasional (5-29%)HP:0002947

Cervical spinal canal stenosis

Occasional (5-29%)HP:0008445

Cervical spine instability

Occasional (5-29%)HP:0010646

Cervical vertebral dysplasia

Occasional (5-29%)HP:0008469

Cognitive delay

Occasional (5-29%)HP:0001263

coronal cleft of vertebrae

Occasional (5-29%)HP:0003417

Related Conditions

Chondrodysplasia punctata(parent)

Metabolic bone disease(parent)

Hereditary disorder of musculoskeletal system(parent)

Inborn error of metabolism(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 778067002
UMLS CUI: C1844853
Fully Specified Name: Brachytelephalangic chondrodysplasia punctata (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.