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Term With Siblings |
Child Terms |
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2q37 microdeletion syndrome
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
8q24.3 microdeletion syndrome
abnormal mineralization disorder +
acromesomelic dysplasia +
ALDH18A1-related de Barsy syndrome
ALG14-congenital disorder of glycosylation +
alveolar capillary dysplasia with misalignment of pulmonary veins
arthrogryposis-renal dysfunction-cholestasis syndrome +
atrial conduction disease
atrial heart septal defect +
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal dominant osteosclerosis, Worth type
autosomal recessive cutis laxa type 2 +
autosomal recessive limb-girdle muscular dystrophy type 2P
B4GALT1-congenital disorder of glycosylation
bird headed-dwarfism, Montreal type
bone dysplasia, lethal Holmgren type
brachydactyly-elbow wrist dysplasia syndrome
calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
Camurati-Engelmann disease
cardiac anomalies - developmental delay - facial dysmorphism syndrome
cardiac valvular dysplasia, X-linked
carpotarsal osteochondromatosis
cerebrocostomandibular syndrome
cheirospondyloenchondromatosis
chondrodysplasia punctata +
chondroectodermal dysplasia with night blindness
cleidocranial dysplasia 1
cleidorhizomelic syndrome
COG1-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
colobomatous microphthalmia-rhizomelic dysplasia syndrome
complex lethal osteochondrodysplasia
congenital absence of both forearm and hand +
congenital absence of both lower leg and foot +
congenital absence of thigh and lower leg with foot present +
congenital absence of upper arm and forearm with hand present
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 +
coronary artery disease, autosomal dominant 2
coxopodopatellar syndrome
craniofrontonasal syndrome
craniometadiaphyseal dysplasia, wormian bone type
craniotubular dysplasia, Ikegawa type
creatine transporter deficiency
cutis laxa, autosomal dominant 3
delayed membranous cranial ossification
developmental and epileptic encephalopathy, 55
dextro-looped transposition of the great arteries +
diaphyseal medullary stenosis-bone malignancy syndrome
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
disorder of multiple glycosylation +
disorder of protein N-glycosylation +
disorder of protein O-glycosylation +
dyschondrosteosis-nephritis syndrome
dysplasia epiphysealis hemimelica
dysplasia of head of femur, Meyer type
dysspondyloenchondromatosis
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, spondylodysplastic type +
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 osteodysplasia, Anderson type
familial retinal arterial macroaneurysm
familial sick sinus syndrome +
FGFR3-related chondrodysplasia +
fibular aplasia-ectrodactyly syndrome
filamin-related bone disorder +
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes +
ghosal hematodiaphyseal dysplasia
glycosylphosphatidylinositol biosynthesis defect 15
glycosylphosphatidylinositol biosynthesis defect 16
glycosylphosphatidylinositol biosynthesis defect 17
glycosylphosphatidylinositol biosynthesis defect 18
Hartsfield-Bixler-Demyer syndrome
heart defects-limb shortening syndrome
hyperostosis corticalis generalisata
hyperphosphatasia-intellectual disability syndrome
hypoplastic left heart syndrome +
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +
inborn mitochondrial metabolism disorder +
inherited mitral valve disease +
Langer mesomelic dysplasia
Larsen-like osseous dysplasia-short stature syndrome
Larsen-like syndrome, B3GAT3 type Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
Lenz-Majewski hyperostotic dwarfism
Leri-Weill dyschondrosteosis +
lethal chondrodysplasia, Seller type
lethal Kniest-like dysplasia
LMNA-related cardiocutaneous progeria syndrome
LRP5-related primary osteoporosis
lysosomal storage disease with skeletal involvement +
mandibuloacral dysplasia +
melorheostosis with osteopoikilosis
mesomelia-synostoses syndrome
mesomelic dwarfism, Nievergelt type
mesomelic dwarfism, Reinhardt-Pfeiffer type
mesomelic dwarfism-cleft palate-camptodactyly syndrome
mesomelic dysplasia, Kantaputra type +
mesomelic dysplasia, Savarirayan type
metaphyseal acroscyphodysplasia
metaphyseal chondrodysplasia, Jansen type
metaphyseal chondrodysplasia, Kaitila type
metaphyseal chondrodysplasia, Spahr type
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
metaphyseal dysplasia, Braun-Tinschert type
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
MGAT2-congenital disorder of glycosylation
microcephalic primordial dwarfism due to ZNF335 deficiency
mucopolysaccharidosis-plus syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple epiphyseal dysplasia +
multiple metaphyseal dysplasia
neonatal osteosclerotic dysplasia +
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
non-syndromic limb reduction defect +
oculodentodigital dysplasia +
osteogenesis imperfecta and a reduction of bone mineral density. +
pancreatic insufficiency-anemia-hyperostosis syndrome
parietal foramina with cleidocranial dysplasia
patent ductus arteriosus 2
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
pelvic dysplasia-arthrogryposis of lower limbs syndrome
pericardial effusion, chronic
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
polydactyly-syndactyly-triphalangism +
pontocerebellar hypoplasia type 1
primary bone dysplasia with increased bone density
primary bone dysplasia with multiple joint dislocations
primordial dwarfism and slender bone disorder +
progressive familial heart block +
progressive myoclonic epilepsy type 3
pseudodiastrophic dysplasia
pseudohypoparathyroidism +
pulmonary hypertension, primary, autosomal recessive
RFT1-congenital disorder of glycosylation
rhizomelic dysplasia, Ain-Naz type
rhizomelic dysplasia, Patterson-Lowry type
rhizomelic syndrome, Urbach type
Richieri Costa-Pereira syndrome
Schmid metaphyseal chondrodysplasia
schneckenbecken dysplasia
seizures-scoliosis-macrocephaly syndrome
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
SHOX-related short stature
sinoatrial node dysfunction and deafness
skeletal dysplasia-epilepsy-short stature syndrome
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
SLC10A7-congenital disorder of glycosylation
SLC35A2-congenital disorder of glycosylation
split hand-foot malformation 1 with sensorineural hearing loss
spondylodysplastic dysplasia +
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
spondylometaphyseal dysplasia +
SSR4-congenital disorder of glycosylation
sterol biosynthesis disorder +
structural congenital heart disease, multiple types - GATA4 +
sulfation-related bone disorder
supravalvular aortic stenosis
syndromic craniosynostosis +
tall stature-scoliosis-macrodactyly of the great toes syndrome
Tatton-Brown-Rahman overgrowth syndrome
temtamy preaxial brachydactyly syndrome
thin ribs-tubular bones-dysmorphism syndrome
tricho-dento-osseous syndrome
TRIP11-related skeletal dysplasia +
TRPV4-related bone disorder +
ulna metaphyseal dysplasia syndrome
upper limb mesomelic dysplasia
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
XYLT1-congenital disorder of glycosylation
Zellweger spectrum disorders +
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| Synonyms |
| Exact Synonyms: |
multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
;
multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
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| Related Synonyms: |
JDSCD
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Larsen syndrome, autosomal recessive
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Larsen syndrome, autosomal recessive, formerly
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multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects
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multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
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| Alternate IDs: |
MONDO:0009511
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| Xrefs: |
DOID:0080575
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GARD:17308
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MEDGEN:480034
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MESH:C537874
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MIM:245600
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ORDO:284139
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UMLS:C3278404 |
| Definition Sources: |
Orphanet:284139 |
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