| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Fragile X syndrome |
Is a |
False |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Weaver syndrome |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Marshall-Smith syndrome |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Sotos' syndrome |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Beckwith-Wiedemann syndrome |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage. |
Is a |
False |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Simpson-Golabi-Behmel syndrome (disorder) |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Simpson Golabi Behmel syndrome type 2 |
Is a |
False |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| syndrome de gigantisme cérébral-kystes maxillaires |
Is a |
False |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation). |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare disease with characteristics of capillary malformation and soft tissue hypertrophy. The cause is unknown however GNA11 mutation has been reported in some patients. Capillary malformation in this disease has characteristics of widespread reticulated erythematous patches. The associated overgrowth is proportionate and is not progressive. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to moderate intellectual disability, autism spectrum phenotype, macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions, and seizures. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occurring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
| A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. |
Is a |
True |
Multiple malformation syndrome with early overgrowth |
Inferred relationship |
Some |
|
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