| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Coffin-Siris syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Osteochondrodysplasia syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Laurence-Moon syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Ochoa syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Leprechaunism syndrome |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Pentalogy of Cantrell |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Multiple malformation syndrome with senile-like appearance |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Borjeson-Forssman-Lehmann syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Kundrat's syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Arteriohepatic dysplasia |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Hanhart's syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Multiple malformation syndrome with limb defect as major feature |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Multiple malformation syndrome, small stature, without skeletal dysplasia |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Rieger syndrome |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Multiple malformation syndrome with early overgrowth |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Duhamel's syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Cerebro-costo-mandibular syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Bardet-Biedl syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Multiple malformation syndrome due to non-infectious environmental agents |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Jarcho-Levin syndrome |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Multiple malformation syndrome with facial defects as major feature |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| VACTEL syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Moore-Federman syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Johanson-Blizzard syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Multiple malformation syndrome, moderate short stature, facial |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Mulibrey nanism syndrome (disorder) |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Distichiasis-lymphedema syndrome |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Aglossia-adactyly syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Smith-Magenis syndrome (disorder) |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Shprintzen syndrome |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Myhre syndrome |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Oculofaciocardiodental syndrome (disorder) |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Genitopatellar syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Manitoba oculotrichoanal syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Stocco Dos Santos type is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterised by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare disorder characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Bosley-Salih-Alorainy syndrome (BSAS) is characterised by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Biemond's syndrome |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Hypogonadism with anosmia |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Is a |
False |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
| A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. |
Is a |
True |
Multiple system malformation syndrome |
Inferred relationship |
Some |
|
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