← Back to Conditions

Richardson Kirk syndrome

disorder
SNOMED 1197148005CUI C1855840

Overview

Richardson Kirk 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.

Abnormally small eyeball
Always present (100%)HP:0000568
Decreased serum PTH
Always present (100%)HP:0031817
Decreased volume of upper lip
Always present (100%)HP:0000219
Seizures due to hypocalcemia
Always present (100%)HP:0002199
Truncal hypotonia
Always present (100%)HP:0008936
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Deep set eye
Very frequent (80-99%)HP:0000490
Dysplastic ears
Very frequent (80-99%)HP:0000377
Epilepsy
Very frequent (80-99%)HP:0001250
High blood phosphate levels
Very frequent (80-99%)HP:0002905
High forehead
Very frequent (80-99%)HP:0000348
Hooked nose
Very frequent (80-99%)HP:0000444
Hypoparathyroidism
Very frequent (80-99%)HP:0000829
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Low blood calcium levels
Very frequent (80-99%)HP:0002901
Mental-retardation
Very frequent (80-99%)HP:0001249
Neonatal hypoparathyroidism
Very frequent (80-99%)HP:0008198
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Retarded ossification
Very frequent (80-99%)HP:0002750
Severe intrauterine growth retardation
Very frequent (80-99%)HP:0008846
Small feet
Very frequent (80-99%)HP:0001773
Dental problems
Frequent (30-79%)HP:0000164
Dystrophic tooth enamel
Frequent (30-79%)HP:0000682
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Aplasia/Hypoplasia affecting the eye
Occasional (5-29%)HP:0008056

Related Conditions

Developmental hereditary disorder(parent)
Hereditary disorder of endocrine system(parent)
Hypoparathyroidism(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1197148005
UMLS CUI
C1855840
Fully Specified Name
Sanjad Sakati 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.