| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Robinson nail dystrophy-deafness syndrome |
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 |
1 |
| 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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Bilateral secondary renal dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Bilateral secondary renal dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Progressive diaphyseal dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
4 |
| 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 |
1 |
| A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| 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 |
1 |
| A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| 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 |
1 |
| Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Mitral leaflet dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Spondyloocular syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| 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 |
1 |
| A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by 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 common features 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. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by 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 common features 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. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| 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 |
1 |
| A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Bone dysplasia Azouz type |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Mitral valve dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. |
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 |
1 |
| IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Scypho-patellar dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. |
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 |
1 |
| syndrome d'Ehlers-Danlos type vasculaire-like |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| syndrome de dyschondrostéose - néphropathie |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. |
Associated morphology |
False |
Congenital dysplasia |
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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| 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 |
1 |
| 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 |
1 |
| Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| 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 |
1 |
| A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloenchondrodysplasia with immune dysregulation |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Dermatofibrosis lenticularis disseminata |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Anonychia with bizarre flexural pigmentation |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Frontonasal dysplasia sequence |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Robinow-like syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| syndrome de Moynahan |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| 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 |
2 |
| A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Dacryocystitis and osteopoikilosis syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| 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 |
2 |
| Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Hidrotic ectodermal dysplasia syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
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