Craniosynostosis

Symptom Information:

Symptom ID: HPO:0001363
Synonyms:
Craniostenosis [HPO:0001363]
Craniosyostosis [HPO:0001363]
Early fusion of cranial sutures [HPO:0001363]
Premature closure of cranial sutures [HPO:0001363]
Premature fontanel closure [HPO:0001363]
Craniosynostosis syndrome (disorder) [Orphanet:2160]
Craniosynostosis [Orphanet:2160]
Craniostenosis [OMIM:Craniostenosis]
Craniosynostosis [OMIM:Craniosynostosis]
Craniosyostosis [OMIM:Craniosyostosis]
Early fusion of cranial sutures [OMIM:Early fusion of cranial sutures]
Premature closure of cranial sutures [OMIM:Premature closure of cranial sutures]
Premature fontanel closure [OMIM:Premature fontanel closure]
Craniostenosis/craniosynostosis/sutural synostosis [Orphanet:2160]
Premature closure of cranial sutures [Orphanet:2160]
Premature closure of cranial sutures [MedDRA:10048907]
Craniosynostosis [MedDRA:10049889]
Craniosynostosis (1 patient) [OMIM:Craniosynostosis (1 patient)]
Craniosynostosis (18%) [OMIM:Craniosynostosis (18%)]
Craniosynostosis (coronal and metopic suture) [OMIM:Craniosynostosis (coronal and metopic suture)]
Craniosynostosis (coronal with or without sagittal suture) [OMIM:Craniosynostosis (coronal with or without sagittal suture)]
Craniosynostosis (coronal, lambdoid, sagittal) [OMIM:Craniosynostosis (coronal, lambdoid, sagittal)]
Craniosynostosis (coronal, metopic, lambdoidal) [OMIM:Craniosynostosis (coronal, metopic, lambdoidal)]
Craniosynostosis (coronal, sagittal, lambdoid sutures) [OMIM:Craniosynostosis (coronal, sagittal, lambdoid sutures)]
Craniosynostosis (in some patients) [OMIM:Craniosynostosis (in some patients)]
Craniosynostosis (lambdoid and coronal sutures) [OMIM:Craniosynostosis (lambdoid and coronal sutures)]
Craniosynostosis (metopic suture) [OMIM:Craniosynostosis (metopic suture)]
Craniosynostosis (metopic, sagittal, lambdoid) [OMIM:Craniosynostosis (metopic, sagittal, lambdoid)]
Craniosynostosis (primarily metopic, but may also involve coronal or sagittal sutures) [OMIM:Craniosynostosis (primarily metopic, but may also involve coronal or sagittal sutures)]
Craniosynostosis (rare) [OMIM:Craniosynostosis (rare)]
Craniosynostosis (reported in 1 patient) [OMIM:Craniosynostosis (reported in 1 patient)]
Craniosynostosis (sagittal, metopic, lambdoid) [OMIM:Craniosynostosis (sagittal, metopic, lambdoid)]
Craniosynostosis (uncommon) [OMIM:Craniosynostosis (uncommon)]
Quality:
Cross references:
HPO:0011324 "Multiple suture craniosynostosis" [Orphanet:2160]
Orphanet:2160 "Craniostenosis/craniosynostosis/sutural synostosis" [Orphanet:2160]
OMIM: "Craniostenosis" [OMIM:Craniostenosis]
OMIM: "Craniosynostosis" [OMIM:Craniosynostosis]
OMIM: "Craniosyostosis" [OMIM:Craniosyostosis]
OMIM: "Early fusion of cranial sutures" [OMIM:Early fusion of cranial sutures]
OMIM: "Premature closure of cranial sutures" [OMIM:Premature closure of cranial sutures]
OMIM: "Premature fontanel closure" [OMIM:Premature fontanel closure]
OMIM: "Craniosynostosis (1 patient)" [OMIM:Craniosynostosis (1 patient)]
OMIM: "Craniosynostosis (18%)" [OMIM:Craniosynostosis (18%)]
OMIM: "Craniosynostosis (coronal and metopic suture)" [OMIM:Craniosynostosis (coronal and metopic suture)]
OMIM: "Craniosynostosis (coronal with or without sagittal suture)" [OMIM:Craniosynostosis (coronal with or without sagittal suture)]
OMIM: "Craniosynostosis (coronal, lambdoid, sagittal)" [OMIM:Craniosynostosis (coronal, lambdoid, sagittal)]
OMIM: "Craniosynostosis (coronal, metopic, lambdoidal)" [OMIM:Craniosynostosis (coronal, metopic, lambdoidal)]
OMIM: "Craniosynostosis (coronal, sagittal, lambdoid sutures)" [OMIM:Craniosynostosis (coronal, sagittal, lambdoid sutures)]
OMIM: "Craniosynostosis (in some patients)" [OMIM:Craniosynostosis (in some patients)]
OMIM: "Craniosynostosis (lambdoid and coronal sutures)" [OMIM:Craniosynostosis (lambdoid and coronal sutures)]
OMIM: "Craniosynostosis (metopic suture)" [OMIM:Craniosynostosis (metopic suture)]
OMIM: "Craniosynostosis (metopic, sagittal, lambdoid)" [OMIM:Craniosynostosis (metopic, sagittal, lambdoid)]
OMIM: "Craniosynostosis (primarily metopic, but may also involve coronal or sagittal sutures)" [OMIM:Craniosynostosis (primarily metopic, but may also involve coronal or sagittal sutures)]
OMIM: "Craniosynostosis (rare)" [OMIM:Craniosynostosis (rare)]
OMIM: "Craniosynostosis (reported in 1 patient)" [OMIM:Craniosynostosis (reported in 1 patient)]
OMIM: "Craniosynostosis (sagittal, metopic, lambdoid)" [OMIM:Craniosynostosis (sagittal, metopic, lambdoid)]
OMIM: "Craniosynostosis (uncommon)" [OMIM:Craniosynostosis (uncommon)]
UMLS:C0010278 "Craniosynostosis" [HPO:0001363]
UMLS:C0010278 "Craniosynostosis" [Orphanet:2160]
Is a (Direct Parents):
Orphanet Abnormality of the skull
HPO         Abnormality of calvarial morphology
HPO         Abnormality of cranial sutures
MedDRA Musculoskeletal and connective tissue disorders of skull congenital
MedDRA Musculoskeletal and connective tissue deformities of skull, face and buccal cavity
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Abnormality of the calvaria(HPO:0002683)
                      Abnormality of the fontanelles or cranial sutures(HPO:0000235)
                         Abnormality of cranial sutures(HPO:0011329)
                            Craniosynostosis(HPO:0001363)
                      Abnormality of calvarial morphology(HPO:0002648)
                         Craniosynostosis(HPO:0001363)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
                Abnormality of the calvaria(HPO:0002683)
                   Abnormality of the fontanelles or cranial sutures(HPO:0000235)
                      Abnormality of cranial sutures(HPO:0011329)
                         Craniosynostosis(HPO:0001363)
                   Abnormality of calvarial morphology(HPO:0002648)
                      Craniosynostosis(HPO:0001363)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of skull congenital(MedDRA:10028382)
          Craniosynostosis(HPO:0001363)
    Musculoskeletal and connective tissue deformities (incl intervertebral disc disorders)(MedDRA:10028377)
       Musculoskeletal and connective tissue deformities of skull, face and buccal cavity(MedDRA:10028378)
          Craniosynostosis(HPO:0001363)
Database Frequency: 132 / 7739
Resource:

All diseases associated with this symptom:

16p13.11 microduplication syndrome (Orphanet:261243)
19p13.12 microdeletion syndrome (Orphanet:254346)
22q11.2 deletion syndrome (Orphanet:567)
3MC SYNDROME 1 (OMIM:257920)
3MC SYNDROME 2 (OMIM:265050)
3q29 microduplication (Orphanet:251038)
5p13 microduplication syndrome (Orphanet:329802)
8q22.1 microdeletion syndrome (Orphanet:178303)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
AUROCEPHALOSYNDACTYLY (OMIM:109050)
Acrocephalopolydactyly (Orphanet:221054)
Acrocephalosyndactyly (Orphanet:946)
Acrocraniofacial dysostosis (Orphanet:949)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Antley-Bixler syndrome (Orphanet:83)
Arterial tortuosity syndrome (Orphanet:3342)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant hyper-IgE syndrome (Orphanet:2314)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal dominant prognathism (Orphanet:2964)
Autosomal recessive hypophosphatemic rickets (Orphanet:289176)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive omodysplasia (Orphanet:93329)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Baller-Gerold syndrome (Orphanet:1225)
Beckwith-Wiedemann syndrome due to NSD1 mutation (Orphanet:238613)
Blue diaper syndrome (Orphanet:94086)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
CARPENTER SYNDROME 1 (OMIM:201000)
CARPENTER SYNDROME 2 (OMIM:614976)
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO (OMIM:615529)
CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS (OMIM:218530)
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS (OMIM:608279)
CRANIOSYNOSTOSIS, ADELAIDE TYPE (OMIM:600593)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (OMIM:218650)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Childhood-onset hypophosphatasia (Orphanet:247667)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 2 (OMIM:613610)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniomicromelic syndrome (Orphanet:1524)
Craniorhiny (Orphanet:157832)
Craniosynostosis - Dandy-Walker malformation - hydrocephalus (Orphanet:1538)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - cataract (Orphanet:1530)
Craniosynostosis - dysmorphism - brachydactyly (Orphanet:1535)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Craniosynostosis - intracranial calcifications (Orphanet:52054)
Craniosynostosis, Boston type (Orphanet:1541)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
Craniosynostosis, Philadelphia type (Orphanet:1527)
Craniotelencephalic dysplasia (Orphanet:1528)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Curry-Jones syndrome (Orphanet:1553)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Cutis laxa (Orphanet:209)
Diabetic embryopathy (Orphanet:1926)
Distal monosomy 10q (Orphanet:96148)
Distal symphalangism (Orphanet:3248)
Dubowitz syndrome (Orphanet:235)
Ear-patella-short stature syndrome (Orphanet:2554)
FRONTOOCULAR SYNDROME (OMIM:605321)
Familial lambdoid synostosis (Orphanet:3267)
Frontometaphyseal dysplasia (Orphanet:1826)
Frontonasal dysplasia (Orphanet:250)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Gómez-López-Hernández syndrome (Orphanet:1532)
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hennekam syndrome (Orphanet:2136)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Hunter-McAlpine craniosynostosis (Orphanet:97340)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hyperlysinemia, type I (OMIM:238700)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Hypophosphatasia (Orphanet:436)
Hypophosphatemic rickets (Orphanet:437)
Infantile hypophosphatasia (Orphanet:247651)
Isolated cloverleaf skull syndrome (Orphanet:2343)
Isolated plagiocephaly (Orphanet:35098)
Isolated scaphocephaly (Orphanet:35093)
Isolated trigonocephaly (Orphanet:3366)
Jackson-Weiss syndrome (Orphanet:1540)
KLEEBLATTSCHAEDEL (OMIM:148800)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Lethal occipital encephalocele-skeletal dysplasia syndrome (Orphanet:293925)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Lowry-MacLean syndrome (Orphanet:2409)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Marshall-Smith syndrome (Orphanet:561)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Mucolipidosis type 3 (Orphanet:577)
Opitz G/BBB syndrome (Orphanet:2745)
Osteoglophonic dwarfism (Orphanet:2645)
Osteopetrosis (Orphanet:2781)
Osteosclerosis - developmental delay - craniosynostosis (Orphanet:178377)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome (Orphanet:710)
Proteus syndrome (Orphanet:744)
ROBERTS SYNDROME (OMIM:268300)
Roberts syndrome (Orphanet:3103)
Rothmund-Thomson syndrome (Orphanet:2909)
SCARF syndrome (Orphanet:3134)
Saethre-Chotzen syndrome (Orphanet:794)
Sakati-Nyhan syndrome (Orphanet:3128)
Saldino-Mainzer syndrome (Orphanet:140969)
Say-Barber-Miller syndrome (Orphanet:3132)
Seckel syndrome (Orphanet:808)
Short stature - deafness - neutrophil dysfunction - dysmorphism (Orphanet:2866)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sotos syndrome (Orphanet:821)
Summitt syndrome (Orphanet:3210)
TMCO1 defect syndrome (Orphanet:228407)
TRIGONOCEPHALY 1 (OMIM:190440)
Trigonocephaly - broad thumbs (Orphanet:3365)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Van den Ende-Gupta syndrome (Orphanet:2460)