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Epiphyseal dysplasia hearing loss dysmorphism


Other Names:
Finucane Kurtz Scott syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1825

Definition
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal dermatoglyphics
Abnormal fingerprints
0007477
Abnormality of the wrist
Abnormalities of the wrists
0003019
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] 		0000708
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypopigmented skin patches
Patchy loss of skin color
0001053
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Seizure 0001250
Sensorineural hearing impairment 0000407
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
30%-79% of people have these symptoms
Deep philtrum 0002002
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Finger syndactyly 0006101
Long philtrum 0000343
Ptosis
Drooping upper eyelid
0000508
Scoliosis 0002650
5%-29% of people have these symptoms
Abnormal localization of kidney
Abnormal localisation of kidneys
0100542
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Epiphyseal dysplasia hearing loss dysmorphism. Click on the link to view a sample search on this topic.

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