Congenital nonprogressive myopathy with Moebius and Robin sequences

disorder

SNOMED 429753001CUI C1850746

Overview

Congenital nonprogressive myopathy with Moebius and Robin sequences 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.

Bowel irritability

Always present (100%)HP:0033628

Broad, upturned nose

Always present (100%)HP:0000455

Cryptorchidism

Always present (100%)HP:0000028

Deglutition disorder

Always present (100%)HP:0002015

Delayed motor milestones

Always present (100%)HP:0001270

Eyelids stay open

Always present (100%)HP:0030001

Glaucoma

Always present (100%)HP:0000501

Lens opacities

Always present (100%)HP:0000518

Proximal neurogenic muscle weakness

Always present (100%)HP:0003701

Retrognathia

Always present (100%)HP:0000278

Seizures

Always present (100%)HP:0001250

Sensorineural deafness

Always present (100%)HP:0000407

Spinal rigidity

Always present (100%)HP:0003306

Underdeveloped muscles

Always present (100%)HP:0009004

Weakness of face

Always present (100%)HP:0030319

Weakness of outermost muscles

Always present (100%)HP:0002460

Aplasia/Hypoplasia of the tongue

Very frequent (80-99%)HP:0010295

Brachydactyly

Very frequent (80-99%)HP:0001156

Central hypotonia

Very frequent (80-99%)HP:0001252

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Eye drop

Very frequent (80-99%)HP:0000508

Facial muscle weakness of muscles innervated by CN VII

Very frequent (80-99%)HP:0010628

Feeding difficulties

Very frequent (80-99%)HP:0011968

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Impaired ocular abduction

Very frequent (80-99%)HP:0000634

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Neurogenic muscle atrophy, especially in the lower limbs

Very frequent (80-99%)HP:0003202

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Pierre-Robin sequence

Very frequent (80-99%)HP:0000201

Related Conditions

Congenital anomaly of skeletal muscle(parent)

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

Quick Facts

SNOMED CT: 429753001
UMLS CUI: C1850746
Fully Specified Name: Congenital nonprogressive myopathy with Moebius and Robin sequences (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.