Camptodactyly syndrome Guadalajara type 3

disorder

SNOMED 1172633003CUI C2677809

Overview

Camptodactyly syndrome Guadalajara type 3 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.

Abnormality of the skull bones

Frequent (30-79%)HP:0000929

Broad cortex of long bones

Frequent (30-79%)HP:0000935

Broad femoral neck

Frequent (30-79%)HP:0006429

Broad, upturned nose

Frequent (30-79%)HP:0000455

Disproportionately small hands

Frequent (30-79%)HP:0200055

Dysplastic ears

Frequent (30-79%)HP:0000377

Eyelid adhesion to globe of eye

Frequent (30-79%)HP:0430007

Flat facial shape

Frequent (30-79%)HP:0012368

Hyperplasia of columella

Frequent (30-79%)HP:0010761

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Mental retardation, mild

Frequent (30-79%)HP:0001256

Multiple pigmented nevi

Frequent (30-79%)HP:0001054

Nasal tip, depressed

Frequent (30-79%)HP:0000437

Osteopenia

Frequent (30-79%)HP:0000938

Pterygium colli

Frequent (30-79%)HP:0000465

Retarded ossification

Frequent (30-79%)HP:0002750

Retrognathia

Frequent (30-79%)HP:0000278

Rib anomalies

Frequent (30-79%)HP:0000772

Short neck

Frequent (30-79%)HP:0000470

Short outer part of limbs

Frequent (30-79%)HP:0006402

Small feet

Frequent (30-79%)HP:0001773

Spina bifida occulta

Frequent (30-79%)HP:0003298

Sternocleidomastoid amyotrophy

Frequent (30-79%)HP:0012036

Thick eyebrow

Frequent (30-79%)HP:0000574

Unbalanced face

Frequent (30-79%)HP:0000324

Wide nasal base

Frequent (30-79%)HP:0012810

Short penis

Occasional (5-29%)HP:0000054

Aplasia of the interphalangeal creases

HP:0006109

Camptodactyly

HP:0012385

Central hypotonia

HP:0001252

Related Conditions

Camptodactyly of finger(parent)

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

Congenital anomaly of neck(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 1172633003
UMLS CUI: C2677809
Fully Specified Name: Camptodactyly syndrome Guadalajara type 3 (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.