Ossification anomaly with psychomotor developmental delay syndrome

disorder

SNOMED 722107005CUI C4302826

Overview

Ossification anomaly with psychomotor developmental delay 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 bone maturation

Frequent (30-79%)HP:0011849

Abnormal shape of shaft of long bone

Frequent (30-79%)HP:0000940

Anterior bulging of the globe of eye

Frequent (30-79%)HP:0000520

Bone overgrowth

Frequent (30-79%)HP:0100774

Elevated liver enzymes

Frequent (30-79%)HP:0002910

Enlarged liver

Frequent (30-79%)HP:0002240

Generalised bone demineralization

Frequent (30-79%)HP:0006462

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

High forehead

Frequent (30-79%)HP:0000348

Hypoplastic mandible condyle

Frequent (30-79%)HP:0000347

Increased distance between eyes

Frequent (30-79%)HP:0000316

Low chest circumference

Frequent (30-79%)HP:0000774

Mental and motor retardation

Frequent (30-79%)HP:0001263

Widened metaphyses

Frequent (30-79%)HP:0003016

Abnormal vertebral bodies

Occasional (5-29%)HP:0003312

Abnormality of the chest

Occasional (5-29%)HP:0000765

Clubbing of fingers

Occasional (5-29%)HP:0100759

Decreased muscle mass

Occasional (5-29%)HP:0003199

Deglutition disorder

Occasional (5-29%)HP:0002015

Delayed gross motor development

Occasional (5-29%)HP:0002194

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Distal phalangeal hypoplasia

Occasional (5-29%)HP:0009882

Gastro-esophageal reflux

Occasional (5-29%)HP:0002020

Growth delay as children

Occasional (5-29%)HP:0008897

Hemangioma of the liver

Occasional (5-29%)HP:0031207

Hypoplastic/small little finger

Occasional (5-29%)HP:0009237

Inverted triangular face

Occasional (5-29%)HP:0000325

Large, late-closing fontanelle

Occasional (5-29%)HP:0000239

No speech development

Occasional (5-29%)HP:0001344

Nostrils anteverted

Occasional (5-29%)HP:0000463

Related Conditions

Dysplasia with defective mineralization(parent)

Degenerative disorder(parent)

Congenital anomaly of thorax(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722107005
UMLS CUI: C4302826
Fully Specified Name: Ossification anomaly with psychomotor developmental delay 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.