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Bird-headed dwarfism Montreal type

disorder
SNOMED 765758008CUI C1859468

Overview

Bird-headed dwarfism Montreal type 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 dermatoglyphics
Very frequent (80-99%)HP:0007477
Abnormal hair quantity
Very frequent (80-99%)HP:0011362
Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Abnormal spinal segmentation
Very frequent (80-99%)HP:0003422
Atrophy of fat
Very frequent (80-99%)HP:0100578
Congenital pyloric atresia
Very frequent (80-99%)HP:0004399
Cryptorchidism
Very frequent (80-99%)HP:0000028
Decreased bone mineral density Z score
Very frequent (80-99%)HP:0004349
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dental cavities
Very frequent (80-99%)HP:0000670
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Hooked nose
Very frequent (80-99%)HP:0000444
Hunched back
Very frequent (80-99%)HP:0002808
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Increased reflexes
Very frequent (80-99%)HP:0001347
Low posterior hair line
Very frequent (80-99%)HP:0002162
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Open bite
Very frequent (80-99%)HP:0010807
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Premature graying of the hair
Very frequent (80-99%)HP:0002216
Prematurely aged appearance
Very frequent (80-99%)HP:0007495
Scoliosis
Very frequent (80-99%)HP:0002650
Shagreen patch
Very frequent (80-99%)HP:0009721
Short stature, severe
Very frequent (80-99%)HP:0003510
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
Sweating
Very frequent (80-99%)HP:0000975
Wide-spaced nipples
Very frequent (80-99%)HP:0006610
Xerosis
Very frequent (80-99%)HP:0000958
Baldness
HP:0002293

Related Conditions

Primordial dwarfism(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital microcephalus(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
765758008
UMLS CUI
C1859468
Fully Specified Name
Microcephalic primordial dwarfism Montreal type (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.