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Oto-palato-digital syndrome, type II

disorder
SNOMED 42432003CUI C1844696

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Atria septal defect
Always present (100%)HP:0001631
Bowed femura
Always present (100%)HP:0002980
Elbow contracture
Always present (100%)HP:0034391
Extra bones within cranial sutures
Always present (100%)HP:0002645
Flat sella turcica
Always present (100%)HP:0100857
Glaucoma
Always present (100%)HP:0000501
Hairline point
Always present (100%)HP:0000349
Kyphoscoliosis
Always present (100%)HP:0002751
Short neck
Always present (100%)HP:0000470
Sinus of Valsalva aneurysm
Always present (100%)HP:0011645
Split spine
Always present (100%)HP:0002414
Ulnar bowing
Always present (100%)HP:0003031
Umbilical hernia
Always present (100%)HP:0001537
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Bowed long bones
Very frequent (80-99%)HP:0006487
Cleft of palate
Very frequent (80-99%)HP:0000175
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Dysplastic ears
Very frequent (80-99%)HP:0000377
Hearing impairment
Very frequent (80-99%)HP:0000365
Hyperplasia of supraorbital ridge
Very frequent (80-99%)HP:0000336
Hypotrophic malar bone
Very frequent (80-99%)HP:0000272
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Large fontanelle
Very frequent (80-99%)HP:0000239
Low chest circumference
Very frequent (80-99%)HP:0000774
Low-set ears
Very frequent (80-99%)HP:0000369
Missing all teeth
Very frequent (80-99%)HP:0000674
Narrow mouth
Very frequent (80-99%)HP:0000160
Nasal hypoplasia
Very frequent (80-99%)HP:0003196

Related Conditions

Congenital anomaly of limb(parent)
Auditory system hereditary disorder(parent)
Otopalatodigital syndrome spectrum disorder(parent)
Disorder of ear(parent)
Congenital anomaly of face(parent)
Cleft palate(parent)

Quick Facts

SNOMED CT
42432003
UMLS CUI
C1844696
Fully Specified Name
Oto-palato-digital syndrome, 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.