| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Mohr syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
5 |
| Odontotrichomelic syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Orofacial-digital syndrome III |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
5 |
| Orofacial-digital syndrome IV |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
5 |
| Oral-facial-digital syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| Oculodento-osseous dysplasia - severe type |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
9 |
| Oculodento-osseous dysplasia - mild type (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
9 |
| A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloocular syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Renal dysplasia co-occurrent with megalocystis and sirenomelia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Ulna metaphyseal dysplasia syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Multiple non-ossifying fibromatosis |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| syndrome ischio-vertébral |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Brachyolmia type 1 Toledo type |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| syndrome ischio-vertébral |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Micromelic spondyloepimetaphyseal dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
6 |
| Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
5 |
| 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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
8 |
| A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Dyssegmental dysplasia with glaucoma syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
5 |
| A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
5 |
| A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| Mitral valve dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Mitral leaflet dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Truncal valve dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Congenital dysplasia of cardiac valve (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Defects of tubular bones and spine (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
6 |
| A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
5 |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
8 |
| Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| 12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
6 |
| A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia). |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
6 |
| Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia due to matrilin-3 variants and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Sparse hair with short stature and skin anomaly syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
5 |
| A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
6 |
| Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. |
Associated morphology |
False |
Congenital dysplasia |
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. |
Associated morphology |
False |
Congenital dysplasia |
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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
8 |
| A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
6 |
| X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
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