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Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome

disorder
SNOMED 711156009CUI C0220687

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Clinical Trials

1
Total Trials
1
Recruiting
0
With Results

Recent Trials

Methylphenidate in KBG Syndrome: N-of-1 Series

NCT06465641Phase 4Recruiting15 enrolled
View all 1 trials on ClinicalTrials.gov

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hypoplastic hands
Always present (100%)HP:0004279
Mental-retardation
Always present (100%)HP:0001249
Permanent curving of the pinkie finger
Always present (100%)HP:0004209
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Low anterior hairline
Very frequent (80-99%)HP:0000294
Low posterior hair line
Very frequent (80-99%)HP:0002162
Protruding ear
Very frequent (80-99%)HP:0000411
Abnormal distribution of hair
Frequent (30-79%)HP:0010720
Abnormal skeletal morphology
Frequent (30-79%)HP:0011842
Bilateral conductive hearing loss
Frequent (30-79%)HP:0008513
Caesarean section
Frequent (30-79%)HP:0011410
Cervical ribs
Frequent (30-79%)HP:0000891
Cleft of palate
Frequent (30-79%)HP:0000175
Convex bridge of nose
Frequent (30-79%)HP:0000426
Cryptorchidism
Frequent (30-79%)HP:0000028
Cutaneous syndactyly of digits
Frequent (30-79%)HP:0012725
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Delayed skeletal development
Frequent (30-79%)HP:0002750
Diastema between maxillary central incisors
Frequent (30-79%)HP:0001566
Feeding difficulties
Frequent (30-79%)HP:0011968
Finger clinodactyly
Frequent (30-79%)HP:0040019
Hyperplasia of tooth
Frequent (30-79%)HP:0001572
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Increased length of philtrum
Frequent (30-79%)HP:0000343
Inverted triangular face
Frequent (30-79%)HP:0000325
Macrotia
Frequent (30-79%)HP:0000400
Nostrils anteverted
Frequent (30-79%)HP:0000463

Related Conditions

Autosomal dominant hereditary disorder(parent)
Congenital malformation syndromes associated with short stature(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
711156009
UMLS CUI
C0220687
Fully Specified Name
Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Clinical Trials
1
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.