| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
9 |
| A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
7 |
| A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| 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. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| 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. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Symbrachydactyly of digit of hand (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Congenital bilateral short Achilles tendons (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Congenital bilateral short Achilles tendons (disorder) |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Congenital bilateral short Achilles tendons (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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). |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| An extremely rare polymalformative syndrome. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Mandibuloacral dysostosis |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Brachydactyly of finger of right hand |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Brachydactyly of finger of left hand (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Brachydactyly of finger of bilateral hands (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Brachydactyly of finger of bilateral hands (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Brachydactyly of toes of left foot |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bilateral brachydactyly of toes |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bilateral brachydactyly of toes |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Brachydactyly of toes of right foot (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Short preputial frenulum |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Hand-foot-genital syndrome |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Brachymetatarsia of first metatarsal |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Brachymetatarsia of fourth metatarsal |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Autosomal recessive Robinow syndrome |
Associated morphology |
False |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Symbrachydactyly of bilateral hands and feet (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Symbrachydactyly of bilateral hands and feet (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Symbrachydactyly of bilateral hands and feet (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Symbrachydactyly of bilateral hands and feet (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Longitudinal deficiency of bilateral fibulae |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Longitudinal deficiency of bilateral fibulae |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital short left Achilles tendon |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital short right Achilles tendon |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Short bridge of nose (finding) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Short columella of nose (finding) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Short nasal septum |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Short philtrum |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Lethal congenital disproportionate short trunk short stature |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Lethal congenital disproportionate short limbed short stature (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Thanatophoric dysplasia |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Atelosteogenesis type 2 |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| Thanatophoric dysplasia, type 1 (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| Thanatophoric dysplasia, type 2 (disorder) |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. |
Associated morphology |
True |
Abnormally short growth (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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