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Capra DeMarco syndrome

disorder
SNOMED 720815000CUI C3267187

Overview

Capra DeMarco 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.

Blepharophimosis
Very frequent (80-99%)HP:0000581
Bowed long bones
Very frequent (80-99%)HP:0006487
Chiari malformation
Very frequent (80-99%)HP:0002308
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Cryptorchidism
Very frequent (80-99%)HP:0000028
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Deformity of the skull
Very frequent (80-99%)HP:0001363
Epilepsy
Very frequent (80-99%)HP:0001250
Fused forearm bones
Very frequent (80-99%)HP:0002974
High forehead
Very frequent (80-99%)HP:0000348
Hypoplasia of columella
Very frequent (80-99%)HP:0002000
Hypotrophic malar bone
Very frequent (80-99%)HP:0000272
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Low-set ears
Very frequent (80-99%)HP:0000369
Microtia
Very frequent (80-99%)HP:0008551
Moderate mental retardation
Very frequent (80-99%)HP:0002342
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Nonsyndromal hydrocephalus
Very frequent (80-99%)HP:0000238
Pectus carinatum
Very frequent (80-99%)HP:0000768
Renal aplasia
Very frequent (80-99%)HP:0000104
Short hands
Very frequent (80-99%)HP:0004279
Short penis
Very frequent (80-99%)HP:0000054
Small kidneys
Very frequent (80-99%)HP:0000089
Tall shaped head
Very frequent (80-99%)HP:0000262
Wide skull shape
Very frequent (80-99%)HP:0000248
Wide-spaced nipples
Very frequent (80-99%)HP:0006610
Abnormal septum pellucidum morphology
Frequent (30-79%)HP:0007375
Hypertonia
Frequent (30-79%)HP:0001276

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)
Congenital hydrocephalus(parent)
Congenital anomaly of bone and joint(parent)
Chiari malformation type I(parent)
Genetic disease(parent)
Congenital radioulnar synostosis(parent)
Interparietal craniosynostosis(parent)

Quick Facts

SNOMED CT
720815000
UMLS CUI
C3267187
Fully Specified Name
Capra DeMarco 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.