Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome

disorder

SNOMED 716169009CUI C4274798

Overview

Holoprosencephaly sequence with hypokinesia and congenital joint contracture 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.

Absent/small lungs

Very frequent (80-99%)HP:0006703

Decreased fetal movement

Very frequent (80-99%)HP:0001558

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Multiple joint contractures

Very frequent (80-99%)HP:0002828

Single brain ventricle

Very frequent (80-99%)HP:0001360

Low-set ears

Frequent (30-79%)HP:0000369

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Short neck

Frequent (30-79%)HP:0000470

Sloping forehead

Frequent (30-79%)HP:0000340

Wide thorax

Frequent (30-79%)HP:0100625

Abnormal dermatoglyphics

Occasional (5-29%)HP:0007477

Abnormal diencephalon morphology

Occasional (5-29%)HP:0010662

Abnormal pleura morphology

Occasional (5-29%)HP:0002103

Blepharophimosis

Occasional (5-29%)HP:0000581

Cerebellar hypoplasia/atrophy

Occasional (5-29%)HP:0007360

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Enophthalmos

Occasional (5-29%)HP:0000490

Hydrancephaly

Occasional (5-29%)HP:0002324

Hypoplastic mandible condyle

Occasional (5-29%)HP:0000347

Hypoplastic or absent corpus callosum

Occasional (5-29%)HP:0007370

Intrauterine growth retardation, IUGR

Occasional (5-29%)HP:0001511

Renal hypoplasia/aplasia

Occasional (5-29%)HP:0008678

Thumb-in-palm pattern

Occasional (5-29%)HP:0001181

Related Conditions

Holoprosencephaly sequence(parent)

Congenital anomaly of central nervous system(parent)

Hereditary disorder of nervous system(parent)

Inherited arthrogryposis(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 716169009
UMLS CUI: C4274798
Fully Specified Name: Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.