Craniosynostosis
Symptom Information:
Symptom ID: | HPO:0001363 | |||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): | ||||||||||||||||||||||||||||||||||
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 calvarial morphology(HPO:0002648) Craniosynostosis(HPO:0001363) Abnormality of the fontanelles or cranial sutures(HPO:0000235) Abnormality of cranial sutures(HPO:0011329) 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 calvarial morphology(HPO:0002648) Craniosynostosis(HPO:0001363) Abnormality of the fontanelles or cranial sutures(HPO:0000235) Abnormality of cranial sutures(HPO:0011329) Craniosynostosis(HPO:0001363) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) 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) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal and connective tissue disorders of skull congenital(MedDRA:10028382) Craniosynostosis(HPO:0001363) |
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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) |