Kozlowski-Krajewska syndrome
| Kozlowski-Krajewska syndrome | |
|---|---|
| Synonyms | Kozlowski-Krajewska syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Short stature, skeletal dysplasia, dwarfism |
| Complications | Joint pain, mobility issues |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Achondroplasia, hypochondroplasia |
| Prevention | None |
| Treatment | Physical therapy, orthopedic surgery |
| Medication | Pain management |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Alternate names
Intellectual disability-polydactyly-uncombable hair syndrome
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.
NIH genetic and rare disease info
Kozlowski-Krajewska syndrome is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - Kozlowski-Krajewska syndrome
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Resources
| Additional resources | ||
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Kozlowski-Krajewska syndrome
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