MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3

disorder

SNOMED 770755007CUI C4749459

Overview

MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3 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 skeletal morphology

Very frequent (80-99%)HP:0011842

Concave bridge of nose

Very frequent (80-99%)HP:0005280

CVI

Very frequent (80-99%)HP:0100704

High forehead

Very frequent (80-99%)HP:0000348

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Narrow forehead

Very frequent (80-99%)HP:0000341

Osteopenia

Very frequent (80-99%)HP:0000938

Slender long bone

Very frequent (80-99%)HP:0003100

Squint

Very frequent (80-99%)HP:0000486

Wide skull shape

Very frequent (80-99%)HP:0000248

Abnormal vision physiology

Frequent (30-79%)HP:0012373

Abnormality of the urinary system

Frequent (30-79%)HP:0000079

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Cardiac anomaly

Frequent (30-79%)HP:0001627

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Congenital megaureter

Frequent (30-79%)HP:0008676

Deafness

Frequent (30-79%)HP:0000365

Decreased circulating alkaline phosphatase activity

Frequent (30-79%)HP:0003282

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Generalised tonic seizures

Frequent (30-79%)HP:0010818

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hypercalcemia

Frequent (30-79%)HP:0003072

Hypercalciuria

Frequent (30-79%)HP:0002150

Hyperopia

Frequent (30-79%)HP:0000540

Hypoplasia involving bones of the upper limbs

Frequent (30-79%)HP:0009824

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Related Conditions

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

Recessive hereditary disorder (autosomal)(parent)

Metabolic bone disease(parent)

Skeletal dysplasia(parent)

Carbohydrate-deficient glycoprotein syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Seizure disorder(parent)

Congenital anomaly of skeletal bone(parent)

Developmental hereditary disorder(parent)

Inherited metabolic disorder of nervous system(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770755007
UMLS CUI: C4749459
Fully Specified Name: Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies 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.