Kozlowski-Krajewska syndrome

Title

Other Names:

Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair; Intellectual disability-polydactyly-uncombable hair syndrome

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 3082

Disease definition

Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.

Visit the Orphanet disease page for more resources.

Last updated: 10/2/2017

Symptoms Symptoms

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 palate morphology	Abnormality of the palate Abnormality of the roof of the mouth [ more ]	0000174
Abnormality of epiphysis morphology	Abnormal shape of end part of bone	0005930
Abnormality of immune system physiology		0010978
Abnormality of the antihelix		0009738
Abnormality of the antitragus		0009896
Abnormality of the ribs	Rib abnormalities	0000772
Aplasia/Hypoplasia of fingers	Absent/small fingers Absent/underdeveloped fingers [ more ]	0006265
Aplasia/Hypoplasia of the earlobes	Absent/small ear lobes Absent/underdeveloped ear lobes [ more ]	0009906
Aplasia/Hypoplasia of the eyebrow	Absence of eyebrow Lack of eyebrow Missing eyebrow [ more ]	0100840
Aplasia/Hypoplasia of toe	Absent/small toe Absent/underdeveloped toe [ more ]	0001991
Broad hallux phalanx	Broad bone of big toe Wide bone of big toe [ more ]	0010059
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Frontal bossing		0002007
Hernia of the abdominal wall		0004299
Hypoplasia of penis	Underdeveloped penis	0008736
Hypotelorism	Abnormally close eyes Closely spaced eyes [ more ]	0000601
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Kyphosis	Hunched back Round back [ more ]	0002808
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Metatarsus valgus		0010508
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Narrow nasal bridge	Narrow bridge of nose Nasal Bridge, Narrow Nasal bridge, thin [ more ]	0000446
Pectus carinatum	Pigeon chest	0000768
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Short neck	Decreased length of neck	0000470
Short stature	Decreased body height Small stature [ more ]	0004322
Slow-growing hair	Slow growing hair Slow rate of hair growth Slow speed of hair growth [ more ]	0002217
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Uncombable hair		0030056
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2019

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Learn More Learn More

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 Kozlowski-Krajewska syndrome. Click on the link to view a sample search on this topic.

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