Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBone Diseases, Developmental (D001848)
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandHyperostosis (D015576)
Parent Node:
expandHypertelorism (D006972)
..Starting node
..expandSchwartz-Lelek syndrome (C537519)

       Child Nodes:



 Sister Nodes: 
..expandAcrootoocular Syndrome (C564866)
..expandAtrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBagatelle Cassidy syndrome (C537796)
..expandBarber Say syndrome (C537908)
..expandBrachycephalofrontonasal dysplasia (C537085)
..expandCamptodactyly Syndrome, Guadalajara, Type II (C567138)
..expandCamptodactyly Syndrome, Guadalajara, Type III (C567455)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandFRONTONASAL DYSPLASIA 1 (OMIM:136760)
..expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)
..expandFRONTONASAL DYSPLASIA 3 (OMIM:613456)
..expandGastrocutaneous syndrome (C535651)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..expandHypertelorism and tetralogy of Fallot (C538386)
..expandHypertelorism with esophageal abnormality and hypospadias (C538387)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..expandHypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..expandKrauss Herman Holmes syndrome (C537618)
..expandMarles Greenberg Persaud syndrome (C536022)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOpitz GBBB Syndrome, X-Linked (C567932)
..expandPolycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..expandRoberts Syndrome (C535687)
..expandSantos Mateus Leal syndrome (C537235)
..expandSchwartz-Lelek syndrome (C537519)
..expandSeaver Cassidy syndrome (C537529)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10045
Name:Schwartz-Lelek syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D001848|MESH:D006972|MESH:D015576|MESH:D019465
TreeNumbers:C05.116.099.370.231.480/C537519 |C05.116.099/C537519 |C05.116.540/C537519 |C05.660.207.231.480/C537519 |C05.660.207/C537519 |C16.131.621.207.231.480/C537519 |C16.131.621.207/C537519
Synonyms:Craniometaphyseal dysplasia |Genetic craniotubular bone dysplasias and hyperostoses
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C537519
MeSH: C537519
OMIM: 269300;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001090Abnormally large globe
3 HP:0005622Broad long bones
4 HP:0000885Broad ribs
5 HP:0000670Carious teeth
6 HP:0002673Coxa valga
7 HP:0002967Cubitus valgus
8 HP:0000678Dental crowding
9 HP:0000494Downslanted palpebral fissures
10 HP:0003155Elevated circulating alkaline phosphatase concentration
11 HP:0003015Flared metaphysis
12 HP:0002857Genu valgum
13 HP:0002970Genu varum
14 HP:0000218High palate
15 HP:0000369Low-set ears
16 HP:0000256Macrocephaly
17 HP:0000272Malar flattening
18 HP:0000303Mandibular prognathia
19 HP:0001355Megalencephaly
20 HP:0000691Microdontia
21 HP:0000695Natal tooth
22 HP:0011220Prominent forehead
23 HP:0002650Scoliosis
24 HP:0004322Short stature
25 HP:0000260Wide anterior fontanel
Disease Causing ClinVar Variants