| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital radial deviation of finger (disorder) |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Intellectual disability with cataract and kyphosis syndrome |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital sacrococcygeal anomaly |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Caudal regression syndrome |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital absence of cranial vault |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Talipes valgus of left foot (disorder) |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Talipes valgus of right foot (disorder) |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Skeletal dysplasia |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Radicular cyst |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Infantile myofibromatosis |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Kongenit postural rygskævhed |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital postural scoliosis |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Aplasia of muscle |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital instability of spine |
Is a |
True |
Congenital anomaly of musculoskeletal system |
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 |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Acrania |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital lordosis deformity of spine (disorder) |
Is a |
False |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Congenital deformity of musculoskeletal system (disorder) |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
| Aplasia of bone of axial skeleton |
Is a |
True |
Congenital anomaly of musculoskeletal system |
Inferred relationship |
Some |
|
FHIR