| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Flexion deformity of finger of left hand |
Is a |
False |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Thumb in palm deformity |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Flexion deformity of finger |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Fixed flexion deformity of the thumb |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Camptodactyly |
Is a |
False |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Camptodactyly-little finger |
Is a |
False |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. |
Is a |
True |
Flexion deformity of hand |
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 |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. |
Is a |
False |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. |
Is a |
False |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Camptodactyly of bilateral fingers |
Is a |
False |
Flexion deformity of hand |
Inferred relationship |
Some |
|
| Camptodactyly of finger (disorder) |
Is a |
True |
Flexion deformity of hand |
Inferred relationship |
Some |
|
FHIR