OFD IV - Orofacial-digital syndrome IV

disorder

SNOMED 239031000CUI C0406727

Overview

OFD IV - Orofacial-digital syndrome IV 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 oral mucosa morphology

Very frequent (80-99%)HP:0011830

Abnormal shape/structure of ear

Very frequent (80-99%)HP:0011267

Abnormality of lingual frenum

Very frequent (80-99%)HP:0000190

Abnormality of the auricle

Very frequent (80-99%)HP:0000356

Abnormality of the gingiva

Very frequent (80-99%)HP:0000168

Absent testis

Very frequent (80-99%)HP:0010469

Aplasia/Hypoplasia of the mandible

Very frequent (80-99%)HP:0009118

Aplasia/Hypoplasia of the tibia

Very frequent (80-99%)HP:0005772

Choanal atresia

Very frequent (80-99%)HP:0000453

Decreased amniotic fluid index

Very frequent (80-99%)HP:0001562

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased testicular size

Very frequent (80-99%)HP:0008734

Eye movement issue

Very frequent (80-99%)HP:0000496

Genua vara

Very frequent (80-99%)HP:0002970

Glossal abnormality

Very frequent (80-99%)HP:0000157

Hamartoma

Very frequent (80-99%)HP:0010566

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased nasal width

Very frequent (80-99%)HP:0000445

Joint disease

Very frequent (80-99%)HP:0001367

Joint dislocation

Very frequent (80-99%)HP:0001373

Laryngomalacia

Very frequent (80-99%)HP:0001601

Low-set ears

Very frequent (80-99%)HP:0000369

Micromelia

Very frequent (80-99%)HP:0002983

Midline cleft lip

Very frequent (80-99%)HP:0000161

Monorchidism

Very frequent (80-99%)HP:0030868

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Oral cleft

Very frequent (80-99%)HP:0000202

Oral synechia

Very frequent (80-99%)HP:0010285

Partial syndactyly

Very frequent (80-99%)HP:0006101

Related Conditions

Oral-facial-digital syndrome(parent)

Developmental hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 239031000
UMLS CUI: C0406727
Fully Specified Name: Orofacial-digital syndrome IV (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.