Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome

disorder

SNOMED 1172889005CUI C5567644

Overview

Palatal anomalies, multiple diastemata, facial dysmorphism, 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 palate morphology

Frequent (30-79%)HP:0000174

Abnormality of canine

Frequent (30-79%)HP:0011078

Brachydactyly

Frequent (30-79%)HP:0001156

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Bulging forehead

Frequent (30-79%)HP:0011220

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Delayed ability to walk

Frequent (30-79%)HP:0031936

Delayed language development

Frequent (30-79%)HP:0000750

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Mental and motor retardation

Frequent (30-79%)HP:0001263

Outward facing eye ball

Frequent (30-79%)HP:0000577

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Squint

Frequent (30-79%)HP:0000486

Wide-spaced teeth

Frequent (30-79%)HP:0000687

Accessory nipples

Occasional (5-29%)HP:0002558

Bilateral ptosis

Occasional (5-29%)HP:0001488

Chordee

Occasional (5-29%)HP:0000041

Clonus

Occasional (5-29%)HP:0002169

Colpocephaly

Occasional (5-29%)HP:0030048

Cryptorchidism

Occasional (5-29%)HP:0000028

Defective or absent horizontal voluntary eye movements

Occasional (5-29%)HP:0000657

Delayed myelination

Occasional (5-29%)HP:0012448

Enlarged cerebellum

Occasional (5-29%)HP:0012081

Grey sclerae

Occasional (5-29%)HP:0000592

High frontal hairline

Occasional (5-29%)HP:0009890

Hypertrichosis

Occasional (5-29%)HP:0000998

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Hypoplastic toenails

Occasional (5-29%)HP:0001800

Hypospadias

Occasional (5-29%)HP:0000047

Increased distance between eyes

Occasional (5-29%)HP:0000316

Related Conditions

Teeth malformation(parent)

Congenital anomaly of palate(parent)

Global developmental delay(parent)

Congenital anomaly of tooth(parent)

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

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172889005
UMLS CUI: C5567644
Fully Specified Name: Palatal anomalies, widely spaced teeth, facial dysmorphism, 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.