Autosomal recessive Robinow syndrome

disorder

SNOMED 890237005CUI C1849334

Overview

Autosomal recessive 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.

Abnormal spinal segmentation

Very frequent (80-99%)HP:0003422

Bilateral fifth digit clinodactyly

Very frequent (80-99%)HP:0004209

Brachydactyly

Very frequent (80-99%)HP:0001156

Dental problems

Very frequent (80-99%)HP:0000164

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Dwarfism, short-limbed

Very frequent (80-99%)HP:0008873

Flat midface

Very frequent (80-99%)HP:0011800

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Large mouth

Very frequent (80-99%)HP:0000154

Mesomelia

Very frequent (80-99%)HP:0003027

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Open bite

Very frequent (80-99%)HP:0010807

Small nose

Very frequent (80-99%)HP:0003196

Big calvaria

Frequent (30-79%)HP:0000256

Broad bone of big toe

Frequent (30-79%)HP:0010059

Broad thumbs

Frequent (30-79%)HP:0011304

Chronic middle ear infection

Frequent (30-79%)HP:0000389

Cryptorchidism

Frequent (30-79%)HP:0000028

Deafness

Frequent (30-79%)HP:0000365

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Depressed nasal root/bridge

Frequent (30-79%)HP:0005280

Dysplastic fingernails

Frequent (30-79%)HP:0100798

Frontal protuberance

Frequent (30-79%)HP:0002007

Hunched back

Frequent (30-79%)HP:0002808

Hypoplastic female external genitalia

Frequent (30-79%)HP:0012815

Increased length of eyelashes

Frequent (30-79%)HP:0000527

Increased length of philtrum

Frequent (30-79%)HP:0000343

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Robinow syndrome(parent)

Congenital anomaly of rib(parent)

Defect of vertebral segmentation(parent)

Small stature(parent)

Congenital anomaly of spine(parent)

Quick Facts

SNOMED CT: 890237005
UMLS CUI: C1849334
Fully Specified Name: Autosomal recessive 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.