National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Kosztolanyi syndrome


Other Names:
Arachnodactyly, abnormal ossification and mental retardation
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1129

Definition
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.

Visit the Orphanet disease page for more resources.
Last updated: 12/1/2014

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
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the Epiglottis 0010565
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Delayed cranial suture closure 0000270
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Frontal bossing 0002007
Global developmental delay 0001263
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Shallow orbits
Decreased depth of eye sockets
Shallow eye sockets
[ more ] 		0000586
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Thin calvarium
Thin cranial bone
0010539
5%-29% of people have these symptoms
Apnea 0002104
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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 Kosztolanyi syndrome. Click on the link to view a sample search on this topic.

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