| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Radioulnar synostosis and dislocation of radial head |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Proximal radioulnar synostosis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Distal radioulnar synostosis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Radioulnar synostosis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Radioulnar synostosis of bilateral upper limbs |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Radioulnar synostosis of bilateral upper limbs |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Cribriform hymen (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Septate hymen |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Microperforate hymen |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital agenesis of vagina |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Sirenomelus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Sirenomelus (disorder) |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cleft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cheilognathoprosoposchisis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Congenital macrostomia |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft lip sequence |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Bilateral cleft of primary palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Central cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Bilateral complete cleft palate with cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| Bilateral incomplete cleft palate with cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Central complete cleft palate with cleft lip |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Central incomplete cleft palate with cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft hard palate with cleft lip, bilateral |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Central complete cleft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft hard palate, bilateral |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cleft soft palate, bilateral |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Complete cleft of soft palate (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Incomplete cleft of soft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Occult submucous cleft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Central incomplete cleft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cheilognathouranoschisis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft palate with cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cleft of primary palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Bilateral congenital macrostomia |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Bilateral complete and incomplete cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
10 |
| Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| 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. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| 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. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| 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. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| 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. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| 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. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
8 |
| Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| 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. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| 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. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| An exceedingly rare association characterized by cleft lip and progressive retinopathy. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Cleft upper lip, upper jaw AND palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Cleft hard palate, central |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cleft of soft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Submucous cleft of hard palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cleft hard and soft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Cleft hard and soft palate with right cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Cleft of hard palate (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cleft of hard palate and cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft of soft palate and bilateral cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Cleft of soft palate and cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Right cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Left cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
6 |
| A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal. |
Pathological process (attribute) |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Complete cleft of hard palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Incomplete cleft palate (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Cleft palate and bilateral cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Bilateral cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft hard palate with left cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft hard palate with right cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft soft palate with left cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft soft palate with right cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft hard and soft palate with left cleft lip (disorder) |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Cleft palate with left cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cleft palate with right cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Complete bilateral cleft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Incomplete bilateral cleft palate |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Incomplete bilateral cleft lip |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Cheilognathoschisis |
Pathological process (attribute) |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
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