| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital sacral meningocele |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital hypoplasia of patella (disorder) |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital anomaly of bone of shoulder girdle (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hypoplasia of sacrum (disorder) |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Aplasia of patella |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydroxylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hyperphalangy is almost always bilateral, and patients present no more than five digits and no other skeletal anomalies. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Occult spinal dysraphism sequence |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Lack of ossification of auditory ossicles |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital exostosis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Ichthyose-Hypotrichose-Syndrom |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. |
Is a |
True |
Congenital anomaly of skeletal bone |
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 |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Ehlers-Danlos syndrome (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Incomplete ossification |
Is a |
True |
Congenital anomaly of skeletal bone |
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 |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Achondrogenesis |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital absence of ossicles of ear |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital negative ulnar variant of wrist (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital absence of vertebra |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Condition where the ulna projects more distally relative to the radius. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hyperphosphatasemia with bone disease |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Dysostosis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Carpal-tarsal osteolysis with nephropathy (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| McCune Albright syndrome (disorder) |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Multiple congenital exostosis |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Pachydermoperiostosis - familial |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Patella dysplasia |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia congenita |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Dysplasia with defective mineralization |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteodysplastic primordial dwarfism |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondylodysplastic group |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteopathia striata |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Metatropic dysplasia (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Chondrodysplasia punctata (stippled epiphyses) group (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Metaphyseal dysplasia, Braun-Tinschert type is characterized by metaphyseal undermodeling with broadening of the long bones and femora with an Erlenmeyer flask appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| pseudochondroplasie |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Enchondromatosis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Dysplasias with significant membranous bone involvement |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Dysostosis multiplex group |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Achondrogenesis, type IB |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Winchester syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Pyle metaphyseal dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Defects of tubular bones and spine (disorder) |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Multiple synostosis syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Short rib dysplasia group (with or without polydactyly) |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Cherubism with gingival fibromatosis (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Acromesomelic dysplasia syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondyloperipheral dysplasia (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Beals auriculo-osteodysplasia syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Torg type osteolysis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteosclerosis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| hyperostose corticale dysplasique |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Dysplasia with decreased bone density |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Weill-Marchesani syndrome (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hajdu-Cheney syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Chondrodysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
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