Richieri Costa Gorlin syndrome

disorder

SNOMED 763830009CUI C1838348

Overview

Richieri Costa Gorlin 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.

Nanophthalmos

Always present (100%)HP:0000568

Talipes calcaneovalgus

Always present (100%)HP:0001884

Tessier number 4 facial cleft

Always present (100%)HP:0031576

Abnormality of the eyelashes

Frequent (30-79%)HP:0000499

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased body height

Frequent (30-79%)HP:0004322

Dental anomalies

Frequent (30-79%)HP:0000164

Hypotrophic eyebrow

Frequent (30-79%)HP:0100840

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Midline cleft lip

Frequent (30-79%)HP:0000161

Mongoloid slant

Frequent (30-79%)HP:0000582

Nasal malformation

Frequent (30-79%)HP:0000366

Partial to total absence of eyelashes

Frequent (30-79%)HP:0200102

Scarring or clouding of the cornea of the eye

Frequent (30-79%)HP:0007957

Small nasal alae

Frequent (30-79%)HP:0000430

Tessier cleft

Frequent (30-79%)HP:0002006

Abnormal humerus morphology

Occasional (5-29%)HP:0031095

Abnormality of the eyelids

Occasional (5-29%)HP:0000492

Aplasia/Hypoplasia affecting the eye

Occasional (5-29%)HP:0008056

Brachydactyly

Occasional (5-29%)HP:0001156

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Deep palmar creases

Occasional (5-29%)HP:0006191

Intellectual impairment

Occasional (5-29%)HP:0100543

Notched pupil

Occasional (5-29%)HP:0000589

Proximal interphalangeal finger joint contractures

Occasional (5-29%)HP:0100490

Thumb-in-palm pattern

Occasional (5-29%)HP:0001181

Cleft of upper lip

HP:0000204

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Dysostosis of bone of skull(parent)

Small stature(parent)

Quick Facts

SNOMED CT: 763830009
UMLS CUI: C1838348
Fully Specified Name: Oculomaxillofacial dysostosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.