| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Warts, hypogammaglobulinaemia, infections, and myelokathexis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Upshaw-Schulman syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Hypoxic nephrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypocomplementemic urticarial vasculitis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| von Willebrand factor below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Hypoglobulinaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased renal clearance |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare condition associated with acquired immunodeficiency syndrome (AIDS) and characterised by unwanted weight loss (involving both fat and muscle) of more than ten percent of body weight, with either diarrhoea or weakness and fever which have lasted at least 30 days and are not related to an infection. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Langer mesomelic dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Nievergelt's syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Leri-Weill dyschondrosteosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Mesomelic dysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| syndrome de dyschondrostéose - néphropathie |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Autosomal recessive Robinow syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Leri-Weill dyschondrosteosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| Mesomelic dysplasia of upper limb (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Mesomelic dysplasia of upper limb (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Mesomelic dysplasia of lower limb |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Mesomelic dysplasia of lower limb |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| 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). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| 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). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
9 |
| SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Diastrophic dysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Autosomal recessive Robinow syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxta truncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| 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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Autosomal dominant omodysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Autosomal recessive omodysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| 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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| 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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyzes the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hyponatremia with excess extracellular fluid volume |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Water intoxication syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Hyponatremia with normal extracellular fluid volume |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Cerebral hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Chronic hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Hyponatremia with decreased serum osmolality |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Transurethral resection of prostate syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Dilutional hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Acute hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Transitory neonatal hyponatraemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Paraneoplastic hyponatremia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
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