MCID: KZL006
MIFTS: 17

Kozlowski-Krajewska Syndrome

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kozlowski-Krajewska Syndrome

MalaCards integrated aliases for Kozlowski-Krajewska Syndrome:

Name: Kozlowski-Krajewska Syndrome 52 58 71
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome 52 58
Mental Retardation, Postaxial Polydactyly, Phalangeal Hypoplasia, 2-3 Toe Syndactyly, Unusual Face, Uncombable Hair 52

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Kozlowski-Krajewska Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3082 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.

MalaCards based summary : Kozlowski-Krajewska Syndrome, also known as intellectual disability-polydactyly-uncombable hair syndrome, is related to chromosome 2q35 duplication syndrome and polydactyly. Related phenotypes are intellectual disability and short neck

Related Diseases for Kozlowski-Krajewska Syndrome

Diseases related to Kozlowski-Krajewska Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 10.8
2 polydactyly 10.8

Symptoms & Phenotypes for Kozlowski-Krajewska Syndrome

Human phenotypes related to Kozlowski-Krajewska Syndrome:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
4 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
5 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 broad hallux phalanx 58 31 hallmark (90%) Very frequent (99-80%) HP:0010059
8 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
9 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
10 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
11 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
12 abnormality of immune system physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010978
13 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
14 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
15 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
16 aplasia/hypoplasia of the earlobes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009906
17 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
18 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
19 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
20 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
21 narrow nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000446
22 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
23 metatarsus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010508
24 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
25 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
26 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
27 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
28 slow-growing hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002217
29 abnormality of the antitragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009896
30 aplasia/hypoplasia of fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0006265
31 hernia of the abdominal wall 58 31 hallmark (90%) Very frequent (99-80%) HP:0004299
32 uncombable hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0030056
33 aplasia/hypoplasia of toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001991
34 abnormality of the hair 58 Very frequent (99-80%)

Drugs & Therapeutics for Kozlowski-Krajewska Syndrome

Search Clinical Trials , NIH Clinical Center for Kozlowski-Krajewska Syndrome

Genetic Tests for Kozlowski-Krajewska Syndrome

Anatomical Context for Kozlowski-Krajewska Syndrome

Publications for Kozlowski-Krajewska Syndrome

Articles related to Kozlowski-Krajewska Syndrome:

# Title Authors PMID Year
1
Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair: new syndrome? 61
9028447 1997

Variations for Kozlowski-Krajewska Syndrome

Expression for Kozlowski-Krajewska Syndrome

Search GEO for disease gene expression data for Kozlowski-Krajewska Syndrome.

Pathways for Kozlowski-Krajewska Syndrome

GO Terms for Kozlowski-Krajewska Syndrome

Sources for Kozlowski-Krajewska Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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