Majewski osteodysplastic primordial dwarfism type II

disorder

SNOMED 1208348002CUI C0432246

Overview

Majewski osteodysplastic primordial dwarfism type II 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 metaphysis morphology

Very frequent (80-99%)HP:0000944

Absent/underdeveloped ear lobes

Very frequent (80-99%)HP:0009906

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Bilateral fifth digit clinodactyly

Very frequent (80-99%)HP:0004209

Brachydactyly

Very frequent (80-99%)HP:0001156

Coxa vara

Very frequent (80-99%)HP:0002812

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Dental agenesis

Very frequent (80-99%)HP:0009804

Fine hair

Very frequent (80-99%)HP:0002213

High pitched voice

Very frequent (80-99%)HP:0001620

Hyperplasia of nose

Very frequent (80-99%)HP:0000448

Hypoplastic iliac wing

Very frequent (80-99%)HP:0002866

Micromelia

Very frequent (80-99%)HP:0002983

Narrow pelvis bone

Very frequent (80-99%)HP:0003275

Nasal speech

Very frequent (80-99%)HP:0001611

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Abnormal female external genitalia

Frequent (30-79%)HP:0000055

Absence of eyebrow

Frequent (30-79%)HP:0100840

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Chubby cheeks

Frequent (30-79%)HP:0000293

Dry skin

Frequent (30-79%)HP:0000958

Hypopigmented skin patches

Frequent (30-79%)HP:0001053

Ligamentous laxity

Frequent (30-79%)HP:0001382

Low-set ears

Frequent (30-79%)HP:0000369

Multiple birthmarks

Frequent (30-79%)HP:0007565

Retrognathia

Frequent (30-79%)HP:0000278

Scoliosis

Frequent (30-79%)HP:0002650

Sensorineural deafness

Frequent (30-79%)HP:0000407

Small nasal alae

Frequent (30-79%)HP:0000430

Related Conditions

Congenital microcephalus(parent)

Osteodysplastic primordial dwarfism(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1208348002
UMLS CUI: C0432246
Fully Specified Name: Microcephalic osteodysplastic primordial dwarfism type II (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.