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Pena-Shokeir syndrome type I

disorder
SNOMED 401138005CUI C1276035

Overview

Pena-Shokeir syndrome type I 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.

Congenital joint contractures
Always present (100%)HP:0002803
Wrist contracture
Always present (100%)HP:0001239
Absent palm lines
Very frequent (80-99%)HP:0010489
Akinesia
Very frequent (80-99%)HP:0002304
Arthrogryposis multiplex
Very frequent (80-99%)HP:0002804
Decreased muscle movement
Very frequent (80-99%)HP:0002375
Excessive daytime somnolence
Very frequent (80-99%)HP:0001262
Fetal akinesia sequence
Very frequent (80-99%)HP:0001989
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Less than 10 fetal movements in 12 hours
Very frequent (80-99%)HP:0001558
Multiple joint contractures
Very frequent (80-99%)HP:0002828
Poorly developed lungs
Very frequent (80-99%)HP:0002089
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Cleft of palate
Frequent (30-79%)HP:0000175
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Cryptorchidism
Frequent (30-79%)HP:0000028
Cystic hygroma of the neck
Frequent (30-79%)HP:0000476
Decreased muscle mass
Frequent (30-79%)HP:0003199
Elbow contracture
Frequent (30-79%)HP:0034391
Fetal foot inversion
Frequent (30-79%)HP:0001762
Flat nasal bridge
Frequent (30-79%)HP:0005280
Flexion contractures of hips
Frequent (30-79%)HP:0003273
Hydramnios
Frequent (30-79%)HP:0001561
Increased distance between eyes
Frequent (30-79%)HP:0000316
Low-set ears
Frequent (30-79%)HP:0000369
Muscle atrophy, generalised
Frequent (30-79%)HP:0003700
Dandy-Walker cyst
Occasional (5-29%)HP:0001305
Hypoplastic intestines
Occasional (5-29%)HP:0005245

Related Conditions

Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)
Arthrogryposis multiplex congenita(parent)
Inherited arthrogryposis(parent)
Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT
401138005
UMLS CUI
C1276035
Fully Specified Name
Pena-Shokeir syndrome type I (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.