| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Brachydactyly of toes |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| symbrachydactylie |
Is a |
False |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly of hand |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Weill-Marchesani syndrome (disorder) |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachyphalangia |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly syndrome type E |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly NOS |
Is a |
False |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly syndrome type B (disorder) |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly syndrome type C (disorder) |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachymegalodactyly |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Longitudinal deficiency of phalanges of hand |
Is a |
False |
Brachydactyly |
Inferred relationship |
Some |
|
| Microdactyly |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly-missing phalanx |
Is a |
False |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly-all 3 phalanges |
Is a |
False |
Brachydactyly |
Inferred relationship |
Some |
|
| Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Symbrachydactyly |
Is a |
True |
Brachydactyly |
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 |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly of finger of right hand |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly of finger of left hand (disorder) |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Hand-foot-genital syndrome |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
| Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Brachydactyly |
Inferred relationship |
Some |
|
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