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Autosomal dominant Robinow syndrome

disorder
SNOMED 890233009CUI C5200540

Overview

Autosomal dominant Robinow 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.

Brachydactyly
Very frequent (80-99%)HP:0001156
Flat midface
Very frequent (80-99%)HP:0011800
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Hypoplastic hands
Very frequent (80-99%)HP:0004279
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased nasal width
Very frequent (80-99%)HP:0000445
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Micromelia
Very frequent (80-99%)HP:0002983
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Small nose
Very frequent (80-99%)HP:0003196
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Abnormality of the gingiva
Frequent (30-79%)HP:0000168
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Bulging forehead
Frequent (30-79%)HP:0011220
Central cleft palate
Frequent (30-79%)HP:0009099
Clitoral hypoplasia
Frequent (30-79%)HP:0000060
Cryptorchidism
Frequent (30-79%)HP:0000028
Curly eyelashes
Frequent (30-79%)HP:0007665
Decreased body height
Frequent (30-79%)HP:0004322
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Euryblepharon
Frequent (30-79%)HP:0012905
Frontal protuberance
Frequent (30-79%)HP:0002007
Gingival hyperplasia
Frequent (30-79%)HP:0000212
Hemivertebra
Frequent (30-79%)HP:0002937
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Increased length of eyelashes
Frequent (30-79%)HP:0000527
Increased length of philtrum
Frequent (30-79%)HP:0000343
Large head
Frequent (30-79%)HP:0000256
Mongoloid slant
Frequent (30-79%)HP:0000582

Quick Facts

SNOMED CT
890233009
UMLS CUI
C5200540
Fully Specified Name
Autosomal dominant Robinow 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.