Autosomal dominant spondylocostal dysostosis

disorder

SNOMED 716232002CUI C4274761

Overview

Autosomal dominant spondylocostal dysostosis 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 spinal segmentation

Very frequent (80-99%)HP:0003422

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Scoliosis

Very frequent (80-99%)HP:0002650

Short stature, severe

Very frequent (80-99%)HP:0003510

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Mongoloid slant

Frequent (30-79%)HP:0000582

Nostrils anteverted

Frequent (30-79%)HP:0000463

Prominent back of the head

Frequent (30-79%)HP:0000269

Prominent swayback

Frequent (30-79%)HP:0003307

Short neck

Frequent (30-79%)HP:0000470

Shorter than typical length between neck and abdomen

Frequent (30-79%)HP:0010306

Abnormal morphology of female internal genitalia

Occasional (5-29%)HP:0000008

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormality of the sacrum

Occasional (5-29%)HP:0005107

Cleft of palate

Occasional (5-29%)HP:0000175

Decreased size of cranium

Occasional (5-29%)HP:0000252

Large head

Occasional (5-29%)HP:0000256

Missing ribs

Occasional (5-29%)HP:0000921

Posterior rib fusion

Occasional (5-29%)HP:0000913

respiratory infections, recurrent

Occasional (5-29%)HP:0002205

Rib anomalies

Occasional (5-29%)HP:0000772

Spina bifida occulta

Occasional (5-29%)HP:0003298

Related Conditions

Autosomal dominant hereditary disorder(parent)

Dysostosis(parent)

Congenital anomaly of rib(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Spinal dysplasia(parent)

Congenital thoracic dysplasia(parent)

Quick Facts

SNOMED CT: 716232002
UMLS CUI: C4274761
Fully Specified Name: Autosomal dominant spondylocostal dysostosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.