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以 HPO 交叉檢視
HPO → 對應的病歷用詞，並附加具此 HPO 的疾病作為參考。
Craniosynostosis
HP:0001363
對應病歷用詞(0)
尚無對應用詞。
具此 HPO 的疾病（附加參考）(96)
- 15q overgrowth syndromeORPHA:314585 · Very frequent (99-80%)
- Aniridia-renal agenesis-psychomotor retardation syndromeORPHA:1064 · Very frequent (99-80%)
- Apert syndromeORPHA:87 · Very frequent (99-80%)
- Autosomal recessive malignant osteopetrosisORPHA:667 · Very frequent (99-80%)
- Carpenter syndromeORPHA:65759 · Very frequent (99-80%)
- Craniofrontonasal dysplasiaORPHA:1520 · Very frequent (99-80%)
- Craniofrontonasal dysplasia-Poland anomaly syndromeORPHA:1521 · Very frequent (99-80%)
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndromeORPHA:171839 · Very frequent (99-80%)
- Craniosynostosis, Philadelphia typeORPHA:1527 · Very frequent (99-80%)
- Craniotelencephalic dysplasiaORPHA:1528 · Very frequent (99-80%)
- Hartsfield syndromeORPHA:2117 · Very frequent (99-80%)
- Holoprosencephaly-craniosynostosis syndromeORPHA:2163 · Very frequent (99-80%)
- Non-syndromic bilambdoid and sagittal craniosynostosisORPHA:1516 · Very frequent (99-80%)
- Osteoglosphonic dysplasiaORPHA:2645 · Very frequent (99-80%)
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeORPHA:457395 · Very frequent (99-80%)
- Saethre-Chotzen syndromeORPHA:794 · Very frequent (99-80%)
- Seckel syndromeORPHA:808 · Very frequent (99-80%)
- 3MC syndromeORPHA:293843 · Frequent (79-30%)
- 7q11.23 microduplication syndromeORPHA:96121 · Frequent (79-30%)
- Acrocraniofacial dysostosisORPHA:949 · Frequent (79-30%)
- Antley-Bixler syndromeORPHA:83 · Frequent (79-30%)
- Arterial tortuosity syndromeORPHA:3342 · Frequent (79-30%)
- Autosomal recessive hypophosphatemic ricketsORPHA:289176 · Frequent (79-30%)
- Branchioskeletogenital syndromeORPHA:1299 · Frequent (79-30%)
- Cranioectodermal dysplasiaORPHA:1515 · Frequent (79-30%)
- Craniosynostosis, Herrmann-Opitz typeORPHA:2145 · Frequent (79-30%)
- Curry-Jones syndromeORPHA:1553 · Frequent (79-30%)
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeORPHA:1555 · Frequent (79-30%)
- Distal duplication 5q syndromeORPHA:96097 · Frequent (79-30%)
- Distal triplication 15q syndromeORPHA:314588 · Frequent (79-30%)
- Ear-patella-short stature syndromeORPHA:2554 · Frequent (79-30%)
- Hypomandibular faciocranial dysostosisORPHA:1790 · Frequent (79-30%)
- HypophosphatasiaORPHA:436 · Frequent (79-30%)
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndromeORPHA:314575 · Frequent (79-30%)
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndromeORPHA:457193 · Frequent (79-30%)
- Loeys-Dietz syndromeORPHA:60030 · Frequent (79-30%)
- Lowry-MacLean syndromeORPHA:2409 · Frequent (79-30%)
- Mucolipidosis type IIORPHA:576 · Frequent (79-30%)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndromeORPHA:453499 · Frequent (79-30%)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionORPHA:352665 · Frequent (79-30%)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationORPHA:453504 · Frequent (79-30%)
- Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndromeORPHA:88643 · Frequent (79-30%)
- Osteosclerosis-developmental delay-craniosynostosis syndromeORPHA:178377 · Frequent (79-30%)
- Paternal uniparental disomy of chromosome 1 syndromeORPHA:251004 · Frequent (79-30%)
- Say-Barber-Miller syndromeORPHA:3132 · Frequent (79-30%)
- SCARF syndromeORPHA:3134 · Frequent (79-30%)
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndromeORPHA:2866 · Frequent (79-30%)
- Shprintzen-Goldberg syndromeORPHA:2462 · Frequent (79-30%)
- 16p13.11 microduplication syndromeORPHA:261243 · Occasional (29-5%)
- 19p13.12 microdeletion syndromeORPHA:254346 · Occasional (29-5%)
- 1p31p32 microdeletion syndromeORPHA:401986 · Occasional (29-5%)
- 3q29 microduplication syndromeORPHA:251038 · Occasional (29-5%)
- 8q22.1 microdeletion syndromeORPHA:178303 · Occasional (29-5%)
- 9q21.13 microdeletion syndromeORPHA:531151 · Occasional (29-5%)
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeORPHA:412069 · Occasional (29-5%)
- Alpha-mannosidosis, infantile formORPHA:309282 · Occasional (29-5%)
- Autosomal dominant generalized epidermolysis bullosa simplex, severe formORPHA:79396 · Occasional (29-5%)
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiencyORPHA:2314 · Occasional (29-5%)
- Autosomal recessive omodysplasiaORPHA:93329 · Occasional (29-5%)
- Aymé-Gripp syndromeORPHA:1272 · Occasional (29-5%)
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeORPHA:536467 · Occasional (29-5%)
- Brachydactyly-short stature-retinitis pigmentosa syndromeORPHA:166035 · Occasional (29-5%)
- Choanal atresiaORPHA:137914 · Occasional (29-5%)
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyORPHA:95699 · Occasional (29-5%)
- Corpus callosum agenesis-neuronopathy syndromeORPHA:1496 · Occasional (29-5%)
- CTCF-related neurodevelopmental disorderORPHA:363611 · Occasional (29-5%)
- Dubowitz syndromeORPHA:235 · Occasional (29-5%)
- FG syndrome type 1ORPHA:93932 · Occasional (29-5%)
- Frontometaphyseal dysplasiaORPHA:1826 · Occasional (29-5%)
- Gabriele-de Vries syndromeORPHA:506358 · Occasional (29-5%)
- Greig cephalopolysyndactyly syndromeORPHA:380 · Occasional (29-5%)
- Hennekam syndromeORPHA:2136 · Occasional (29-5%)
- HyperlysinemiaORPHA:2203 · Occasional (29-5%)
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeORPHA:369837 · Occasional (29-5%)
- Larsen syndromeORPHA:503 · Occasional (29-5%)
- Macrocephaly-developmental delay syndromeORPHA:397612 · Occasional (29-5%)
- Marshall-Smith syndromeORPHA:561 · Occasional (29-5%)
- Microcephalic cortical malformations-short stature due to RTTN deficiencyORPHA:468631 · Occasional (29-5%)
- Musculocontractural Ehlers-Danlos syndromeORPHA:2953 · Occasional (29-5%)
- Opitz GBBB syndromeORPHA:2745 · Occasional (29-5%)
- Pediatric-onset Graves diseaseORPHA:525731 · Occasional (29-5%)
- Phosphoserine aminotransferase deficiency, infantile/juvenile formORPHA:284417 · Occasional (29-5%)
- Proteus syndromeORPHA:744 · Occasional (29-5%)
- Roberts syndromeORPHA:3103 · Occasional (29-5%)
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeORPHA:508533 · Occasional (29-5%)
- SLC35A2-CDGORPHA:356961 · Occasional (29-5%)
- SLC39A8-CDGORPHA:468699 · Occasional (29-5%)
- TrichothiodystrophyORPHA:33364 · Occasional (29-5%)
- Van den Ende-Gupta syndromeORPHA:2460 · Occasional (29-5%)
- X-linked hypophosphatemiaORPHA:89936 · Occasional (29-5%)
- Distal deletion 10q syndromeORPHA:96148 · Very rare (<4-1%)
- Enlarged parietal foraminaORPHA:60015 · Very rare (<4-1%)
- Isolated fibular hemimeliaORPHA:93323 · Very rare (<4-1%)
- Proximal 16p11.2 microdeletion syndromeORPHA:261197 · Very rare (<4-1%)
- Sotos syndromeORPHA:821 · Very rare (<4-1%)
- Aneurysm-osteoarthritis syndromeORPHA:284984 · Excluded (0%)