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Floating-Harbor syndrome

disorder
SNOMED 312214005CUI C0729582

Overview

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

Signs & Symptoms

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

Deficit in expressive language
Always present (100%)HP:0002474
Delayed ability to walk
Always present (100%)HP:0031936
Generalized hypertrichosis
Always present (100%)HP:0004554
Glanular hypospadias
Always present (100%)HP:0000807
Infantile eczema
Always present (100%)HP:0001047
Large nose
Always present (100%)HP:0000448
Potato nose
Always present (100%)HP:0000414
Prominent frontal suture
Always present (100%)HP:0005487
Prominent nasal root
Always present (100%)HP:0000426
Small nasal alae
Always present (100%)HP:0000430
Apraxia of speech
Very frequent (80-99%)HP:0011098
Decreased body height
Very frequent (80-99%)HP:0004322
Low birth weight
Very frequent (80-99%)HP:0001518
Broad chest
Frequent (30-79%)HP:0000914
Broad thumbs
Frequent (30-79%)HP:0011304
Curvature of little finger
Frequent (30-79%)HP:0004209
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Delayed skeletal development
Frequent (30-79%)HP:0002750
Dull intelligence
Frequent (30-79%)HP:0001249
Growth deficiency
Frequent (30-79%)HP:0001510
Inverted triangular face
Frequent (30-79%)HP:0000325
Large mouth
Frequent (30-79%)HP:0000154
Mental retardation, mild
Frequent (30-79%)HP:0001256
Moderate mental retardation
Frequent (30-79%)HP:0002342
Short neck
Frequent (30-79%)HP:0000470
Speech delay
Frequent (30-79%)HP:0000750
Squint
Frequent (30-79%)HP:0000486
11 pairs of ribs
Occasional (5-29%)HP:0000878
Abnormal temper tantrums
Occasional (5-29%)HP:0025160
Anxiety disease
Occasional (5-29%)HP:0000739

Related Conditions

Autosomal dominant hereditary disorder(parent)
Slow to talk(parent)
Small stature(parent)
Congenital anomaly of face(parent)
Developmental hereditary disorder(parent)
Bone disease(parent)
Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT
312214005
UMLS CUI
C0729582
Fully Specified Name
Floating-Harbor 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.