| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Baller-Gerold syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acrocephalosyndactyly type V (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Saethre-Chotzen syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Dolichocephalic dwarfism (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Trigonocephaly |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Crouzon syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Anterior perimaxillary faciosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Complete perimaxillary faciosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Posterior perimaxillary faciosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Vomero-premaxillary faciosynostosis (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Vomero-premaxillary faciosynostosis (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Interfrontal craniofaciosynostosis (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acrocephalosyndactyly type I |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acrocephalopolysyndactyly (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Unicoronal craniosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Bicoronal craniosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Premature closure of foramen ovale |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Fibroblast growth factor receptor 3-related craniosynostosis (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acrocephalopolysyndactyly type II |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acrocephalopolysyndactyly type III (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Crouzon syndrome with acanthosis nigricans (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cutis gyrata syndrome of Beare and Stevenson (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Complex craniosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Simple craniosynostosis (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniosynostosis Herrmann Opitz type (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniosynostosis and dental anomalies syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 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. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Long narrow head (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Shprintzen Goldberg craniosynostosis syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Trigonocephaly with broad thumb syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cardiocranial syndrome Pfeiffer type (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniofacial dyssynostosis syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Capra DeMarco syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Craniosynostosis and intracranial calcification syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Craniosynostosis Boston type (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Craniosynostosis Philadelphia type (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Curry-Jones syndrome is a form of syndromic craniosynostosis characterised 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 (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Hunter McAlpine craniosynostosis syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lowry MacLean syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised 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 (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Familial scaphocephaly syndrome McGillivray type (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniosynostosis fibular aplasia syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Trigonocephaly, short stature, developmental delay syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| C syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Holoprosencephaly craniosynostosis syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pseudoaminopterin syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Goodman-Syndrom |
Associated morphology |
False |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| syndrome de Summitt |
Associated morphology |
False |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| SCARF syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Premature restriction of foramen ovale (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Closed ductus venosus |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acrobrachycephaly |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Fronto-malar faciosynostosis (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Parieto-occipital craniosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Interparietal craniosynostosis (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Solitary median maxillary central incisor syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Craniorhiny (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Muenke syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Craniosynostosis syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Antley-Bixler syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Antley-Bixler syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Jackson-Weiss syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spheno-fronto-parietal craniofaciosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Spheno-fronto-parietal craniofaciosynostosis |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acrocephalosyndactyly |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cloverleaf skull syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cloverleaf skull syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cloverleaf skull syndrome |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Acrocephaly |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Acrocephaly |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pfeiffer syndrome type 1 (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pfeiffer syndrome type 2 |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pfeiffer syndrome type 3 (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Non-syndromic metopic craniosynostosis (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) |
Associated morphology |
True |
Premature fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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