| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Lethal retarded ossification syndromes |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| Multiple exostosis syndromes |
Is a |
False |
Chondrodysplasia |
Inferred relationship |
Some |
|
| Kondrodysplasi, uspecificeret |
Is a |
False |
Chondrodysplasia |
Inferred relationship |
Some |
|
| Dyskondroplasi, ikke nærmere specificeret |
Is a |
False |
Chondrodysplasia |
Inferred relationship |
Some |
|
| Lethal chondrodysplasia with fragmented bone (disorder) |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| Achondroplasia |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported. |
Is a |
True |
Chondrodysplasia |
Inferred relationship |
Some |
|
FHIR