| Parent Terms |
Term With Siblings |
Child Terms |
|
|
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
8q24.3 microdeletion syndrome
ALDH18A1-related de Barsy syndrome
ALG14-congenital disorder of glycosylation +
alveolar capillary dysplasia with misalignment of pulmonary veins
arthrogryposis, distal, IIa 11
arthrogryposis, distal, type 1C
arthrogryposis, distal, type 2B4
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
arthrogryposis-renal dysfunction-cholestasis syndrome +
arthrogryposis-severe scoliosis syndrome
atrial conduction disease
atrial heart septal defect +
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal recessive cutis laxa type 2 +
autosomal recessive limb-girdle muscular dystrophy type 2P
B4GALT1-congenital disorder of glycosylation
cardiac anomalies - developmental delay - facial dysmorphism syndrome
cardiac valvular dysplasia, X-linked
COG1-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
congenital contractural arachnodactyly
congenital disorder of glycosylation type I +
congenital disorder of glycosylation type II +
congenital disorder of glycosylation with defective fucosylation
congenital disorder of glycosylation, type Ibb
congenital disorder of glycosylation, type Iw, autosomal dominant
congenital heart defects, multiple types, 3
congenital heart defects, multiple types, 5
congenital muscular dystrophy with intellectual disability
congenital vertebral-cardiac-renal anomalies syndrome +
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
coronary artery disease, autosomal dominant 2
creatine transporter deficiency
cutis laxa, autosomal dominant 3
developmental and epileptic encephalopathy, 55
dextro-looped transposition of the great arteries +
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
disorder of multiple glycosylation +
disorder of protein N-glycosylation +
disorder of protein O-glycosylation +
distal arthrogryposis type 10
distal arthrogryposis type 5D
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, arthrochalasia type +
Ehlers-Danlos syndrome, arthrochalasic type
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, classic type +
Ehlers-Danlos syndrome, classic-like, 2
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, fibronectinemic type
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
Ehlers-Danlos syndrome, periodontitis type +
Ehlers-Danlos syndrome, progeroid type
Ehlers-Danlos syndrome, spondylodysplastic type +
Ehlers-Danlos syndrome, vascular type +
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos/osteogenesis imperfecta syndrome +
Ellis-van Creveld syndrome
encephalopathy due to sulfite oxidase deficiency +
familial atrial fibrillation +
familial atrioventricular septal defect +
familial bicuspid aortic valve
familial cardiomyopathy +
familial long QT syndrome +
familial retinal arterial macroaneurysm
familial sick sinus syndrome +
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes +
glycosylphosphatidylinositol biosynthesis defect 15
glycosylphosphatidylinositol biosynthesis defect 16
glycosylphosphatidylinositol biosynthesis defect 17
glycosylphosphatidylinositol biosynthesis defect 18
heart defects-limb shortening syndrome
Hernández-Aguirre Negrete syndrome
hyperphosphatasia-intellectual disability syndrome
hypoplastic left heart syndrome +
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +
inborn mitochondrial metabolism disorder +
inherited mitral valve disease +
kyphoscoliotic Ehlers-Danlos syndrome
Larsen-like syndrome, B3GAT3 type
LMNA-related cardiocutaneous progeria syndrome
mandibuloacral dysplasia +
MGAT2-congenital disorder of glycosylation
mucopolysaccharidosis-plus syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple congenital anomalies-hypotonia-seizures syndrome 3
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
patent ductus arteriosus 2
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
pericardial effusion, chronic
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
pontocerebellar hypoplasia type 1
progressive familial heart block +
progressive myoclonic epilepsy type 3
pseudohypoparathyroidism +
pulmonary hypertension, primary, autosomal recessive
RFT1-congenital disorder of glycosylation
schneckenbecken dysplasia
seizures-scoliosis-macrocephaly syndrome
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
sinoatrial node dysfunction and deafness
SLC10A7-congenital disorder of glycosylation
SLC35A2-congenital disorder of glycosylation
SSR4-congenital disorder of glycosylation
sterol biosynthesis disorder +
structural congenital heart disease, multiple types - GATA4 +
supravalvular aortic stenosis
temtamy preaxial brachydactyly syndrome
trismus-pseudocamptodactyly syndrome
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
ventricular fibrillation, paroxysmal familial, type 1
ventricular septal defect +
ventricular tachycardia, familial +
Wiedemann-Rautenstrauch syndrome
X-linked Ehlers-Danlos syndrome
XYLT1-congenital disorder of glycosylation
Zellweger spectrum disorders +
|
|
 |
| Synonyms |
| Exact Synonyms: |
ATCS
;
CHST14-related EDS
;
CHST14-related Ehlers-Danlos syndrome
;
D4ST1-deficient EDS
;
D4ST1-deficient Ehlers-Danlos syndrome
;
EDS, Kosho type
;
EDS, arthrogryposic type
;
EDS, musculocontractural type
;
Ehlers-Danlos syndrome, Kosho type
;
Ehlers-Danlos syndrome, arthrogryposic type
|
| Related Synonyms: |
Dundar syndrome
;
EDS6B, formerly
;
EDSMC
;
EDSMC1
;
Ehlers-Danlos syndrome, musculocontractural type 1
;
Ehlers-Danlos syndrome, type VIB, formerly
;
Ehlers-Danlos syndrome, type Vib
;
adducted thumb clubfoot syndrome
;
adducted thumb, clubfoot, and progressive joint and skin laxity syndrome
;
adducted thumb-club foot syndrome
|
| Alternate IDs: |
MONDO:0011142
|
| Xrefs: |
GARD:8486
;
MEDGEN:356497
;
MESH:C000600608
;
NANDO:1200652
;
NANDO:2201262
;
ORDO:2953
;
SCTID:720860004
;
UMLS:C1866294
|
| see_also: |
https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type" xsd:anyURI {source="GARD:0000545 |
| Definition Sources: |
Orphanet:2953 |
|
