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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandLimb Deformities, Congenital (D017880)
Parent Node:
expandSynostosis (D013580)
..Starting node
..expandMesomelia-synostoses syndrome (C537348)

       Child Nodes:



 Sister Nodes: 
..expandAntley-Bixler Syndrome Phenotype (D054882) Child2
..expandBanki Syndrome (C566228)
..expandCoronal synostosis, syndactyly and jejunal atresia (C536445)
..expandCraniosynostoses (D003398) Child64
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandHumeroradial Multiple Synostosis Syndrome (C565509)
..expandHumeroradial Synostosis with Craniofacial Anomalies (C566888)
..expandJorgenson Lenz syndrome (C536292)
..expandMesomelia-synostoses syndrome (C537348)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMultiple synostoses syndrome 2 (C537380)
..expandMultiple Synostoses Syndrome 3 (C567839)
..expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
..expandPatella aplasia, coxa vara, tarsal synostosis (C536307)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRadioulnar Synostosis (C562408)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandRadioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandRamer Ladda syndrome (C535284)
..expandSpondylocarpotarsal synostosis (C535780)
..expandSymphalangism of Toes (C566101)
..expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
..expandSyndactyly (D013576) Child69
..expandSynostoses, tarsal, carpal, and digital (C538156)
..expandSynostosis of Talus and Calcaneus with Short Stature (C566089)
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..expandTsukahara Syndrome (C566376)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7097
Name:Mesomelia-synostoses syndrome
Definition:
Alternative IDs:OMIM:600383
ParentIDs:MESH:D000015|MESH:D013580|MESH:D017880
TreeNumbers:C05.116.099.370.894/C537348 |C05.660.585/C537348 |C05.660.906/C537348 |C16.131.077/C537348 |C16.131.621.585/C537348 |C16.131.621.906/C537348
Synonyms:CHROMOSOME 8q13 DELETION SYNDROME |Mesomelia synostoses |MESOMELIC DYSPLASIA, SYNDROMIC |MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE |Verloes-David syndrome
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C537348
MeSH: C537348
OMIM: 600383;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001438Abnormal abdomen morphology
3 HP:0003468Abnormal vertebral morphology
4 HP:0010292Absent uvula
5 HP:0000444Convex nasal ridge
6 HP:0000494Downslanted palpebral fissures
7 HP:0000126Hydronephrosis
8 HP:0000316Hypertelorism
9 HP:0003027Mesomelia
10 HP:0008845Mesomelic short stature
11 HP:0009701Metacarpal synostosis
12 HP:0002983Micromelia
13 HP:0000308Microretrognathia
14 HP:0001611Nasal speech
15 HP:0005694Partial fusion of proximal row of carpal bones
16 HP:0005891Progressive forearm bowing
17 HP:0000508Ptosis
18 HP:0001773Short foot
19 HP:0001196Short umbilical cordHP:0040284
20 HP:0009487Ulnar deviation of the hand
Disease Causing ClinVar Variants