| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Baller-Gerold syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Acrocephalosyndactyly type V (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Saethre-Chotzen syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Dolichocephalic dwarfism |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Trigonocephaly |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Crouzon disease is characterised by craniosynostosis and facial hypoplasia. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Anterior perimaxillary faciosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Complete perimaxillary faciosynostosis (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Posterior perimaxillary faciosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Vomero-premaxillary faciosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Vomero-premaxillary faciosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Interfrontal craniofaciosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Acrocephalosyndactyly type I |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Acrocephalopolysyndactyly |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Unicoronal craniosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Bicoronal craniosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Premature closure of foramen ovale |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Acrocephalopolysyndactyly type III (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| Cutis gyrata syndrome of Beare and Stevenson |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Nonsyndromic premature fusion of multiple sutures. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Nonsyndromic premature fusion of a single suture. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Long narrow head |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
4 |
| This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
5 |
| Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
4 |
| A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| 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). |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
4 |
| Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
4 |
| Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Craniosynostosis fibular aplasia syndrome (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| 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. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Holoprosencephaly craniosynostosis syndrome (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| acrocéphalopolysyndactylie de type IV |
Associated morphology |
False |
Premature fusion |
Inferred relationship |
Some |
2 |
| syndrome de Summitt |
Associated morphology |
False |
Premature fusion |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
4 |
| Premature restriction of foramen ovale (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Closed ductus venosus |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Fronto-malar faciosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Parieto-occipital craniosynostosis |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Interparietal craniosynostosis (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Solitary median maxillary central incisor syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
4 |
| A rare frontonasal dysplasia malformation syndrome characterised by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Craniosynostosis syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Antley-Bixler syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Antley-Bixler syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| Jackson-Weiss syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Spheno-fronto-parietal craniofaciosynostosis (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Spheno-fronto-parietal craniofaciosynostosis (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Acrocephalosyndactyly |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Cloverleaf skull syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Cloverleaf skull syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Cloverleaf skull syndrome |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| Acrocephaly |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Acrocephaly |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Pfeiffer syndrome type 1 (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Pfeiffer syndrome type 2 (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Pfeiffer syndrome type 3 (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Congenital synostosis of coronal suture of skull |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Congenital synostosis of all sutures of skull (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Congenital synostosis of right coronal suture of skull (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Congenital synostosis of left coronal suture of skull (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Congenital synostosis of right side of lambdoid suture of skull (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| Congenital synostosis of left side of lambdoid suture of skull (disorder) |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and sagittal sutures. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and sagittal sutures. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and sagittal sutures. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
3 |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
1 |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing. |
Associated morphology |
True |
Premature fusion |
Inferred relationship |
Some |
2 |
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