| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with preauricular pits/tags. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Patella dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with active extension impossible) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Winchester syndrome |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Developmental dislocation of ankle and/or foot (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Developmental dislocation of joint of shoulder region |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Occipital dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Saldino-Mainzer dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteoarthritis of left hip joint due to dysplasia (disorder) |
Due to |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
2 |
| Osteoarthritis of right hip joint due to dysplasia |
Due to |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
2 |
| Seckel syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Cutis laxa, x-linked |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Marshall-Smith syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Short rib dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Stickler syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Lethal Kniest-like syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Kniest dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Kniest-Stickler dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital dysplasia of bone caused by drug |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteosclerosis - Stanescu type |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital glenoid dysplasia |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short, bowed femurs may also be associated. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Lordosis deformity of spine due to congenital skeletal dysplasia |
Due to |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
2 |
| A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Madelung's deformity (disorder) |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Diastrophic dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Familial articular hypermobility syndrome (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. |
Associated with |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
7 |
| Congenital dysplasia of joint of knee (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital dysplasia of joint of shoulder region |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital dysplasia of joint of foot |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital dysplasia of ankle joint (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops. Cortical thickening throughout the skeleton, particularly in the long bones and ribs, brachycephaly, severe brachydactyly and craniofacial abnormalities are reported. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital dysplasia of head of femur (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital dysplasia of spine (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital dysplasia of radius (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
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