| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Synbrakydaktyli |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Syndactyly of toes |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Syndactyly of fingers |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Aperts syndrom |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Acrocephalosyndactyly type V (disorder) |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Polysyndactyly |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| syndaktyli af flere fingre eller tæer, uspecificeret |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Syndaktyli, ikke nærmere specificeret |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Syndactyly of thumb (disorder) |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Kongenit ankylodaktyli |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Congenital bony fusion of phalanges (disorder) |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Acrocephalosyndactyly type I |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Acrosyndactyly of the fingers |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Acrocephalosyndactyly |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Cleft hand with syndactyly |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly. |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Symphalangism |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Symbrachydactyly |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Correction of complicated syndactyly |
Has focus |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
2 |
| Correction of syndactyly of fingers using skin expander |
Has focus |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
2 |
| Repair of syndactyly |
Has focus |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
2 |
| Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. |
Is a |
False |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
| A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. |
Is a |
True |
Syndactyly (disorder) |
Inferred relationship |
Some |
|
FHIR