Large fontanelles
Symptom Information:
Symptom ID: | HPO:0000239 | ||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) 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 fontanelles(HPO:0011328) Large fontanelles(HPO:0000239) 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 fontanelles(HPO:0011328) Large fontanelles(HPO:0000239) 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) Large fontanelles(HPO:0000239) |
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Database Frequency: | 135 / 7739 | ||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
17q12 microdeletion syndrome | (Orphanet:261265) |
1p36 deletion syndrome | (Orphanet:1606) |
3C syndrome | (Orphanet:7) |
3q13 microdeletion syndrome | (Orphanet:1621) |
3q29 microduplication | (Orphanet:251038) |
4q21 microdeletion syndrome | (Orphanet:238750) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG1-CDG | (Orphanet:79327) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
Acrocallosal syndrome | (Orphanet:36) |
Acrocraniofacial dysostosis | (Orphanet:949) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Apert syndrome | (Orphanet:87) |
Arachnodactyly - abnormal ossification - intellectual deficit | (Orphanet:1129) |
Athyreosis | (Orphanet:95713) |
Autosomal recessive cutis laxa type 1 | (Orphanet:90349) |
Autosomal recessive cutis laxa type 2 | (Orphanet:90350) |
Autosomal recessive cutis laxa type 2B | (Orphanet:357064) |
Baller-Gerold syndrome | (Orphanet:1225) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Beckwith-Wiedemann syndrome | (Orphanet:116) |
Bifunctional enzyme deficiency | (Orphanet:300) |
CINCA syndrome | (Orphanet:1451) |
CREE MENTAL RETARDATION SYNDROME | (OMIM:606851) |
Central congenital hypothyroidism | (Orphanet:226298) |
Cleidocranial dysplasia | (Orphanet:1452) |
Cloverleaf skull - multiple congenital anomalies | (Orphanet:93267) |
Congenital hypothyroidism | (Orphanet:442) |
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies | (Orphanet:95715) |
Congenital rubella syndrome | (Orphanet:290) |
Cranio-osteoarthropathy | (Orphanet:1525) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Craniomicromelic syndrome | (Orphanet:1524) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
Craniosynostosis - fibular aplasia | (Orphanet:1533) |
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis | (Orphanet:171839) |
Cutis laxa | (Orphanet:209) |
De Barsy syndrome | (Orphanet:2962) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Dislocation of the hip - dysmorphism | (Orphanet:2412) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Down syndrome | (Orphanet:870) |
Dubowitz syndrome | (Orphanet:235) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Facial dysmorphism - shawl scrotum - joint laxity | (Orphanet:1778) |
Familial thyroid dyshormonogenesis | (Orphanet:95716) |
Fetal hydantoin syndrome | (Orphanet:1912) |
Fibrochondrogenesis | (Orphanet:2021) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Glutaryl-CoA dehydrogenase deficiency | (Orphanet:25) |
Grant syndrome | (Orphanet:2097) |
Growth hormone insensitivity syndrome | (Orphanet:181393) |
HUNTER-MACDONALD SYNDROME | (OMIM:611962) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hutchinson-Gilford progeria syndrome | (Orphanet:740) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypophosphatasia | (Orphanet:436) |
Hypothyroidism due to TSH receptor mutations | (Orphanet:90673) |
Hypothyroidism due to deficient transcription factors involved in pituitary development or function | (Orphanet:226307) |
Idiopathic congenital hypothyroidism | (Orphanet:95717) |
Infantile hypophosphatasia | (Orphanet:247651) |
Infantile spasms - broad thumbs | (Orphanet:3173) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked, Wittwer type | (Orphanet:85291) |
Isolated thyroid-stimulating hormone deficiency | (Orphanet:90674) |
Ito hypomelanosis | (Orphanet:435) |
Kenny-Caffey syndrome | (Orphanet:2333) |
Lacrimo-auriculo-dento-digital syndrome | (Orphanet:2363) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal restrictive dermopathy | (Orphanet:1662) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
Macrosomia - microphthalmia - cleft palate | (Orphanet:2432) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Mandibuloacral dysplasia with type B lipodystrophy | (Orphanet:90154) |
Mandibulofacial dysostosis - macroblepharon - macrostomia | (Orphanet:357158) |
Megalencephaly | (Orphanet:2477) |
Mevalonic aciduria | (Orphanet:29) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Mosaic trisomy 9 | (Orphanet:99776) |
Mulibrey nanism | (Orphanet:2576) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
OSTEOGENESIS IMPERFECTA, TYPE II | (OMIM:166210) |
Occipital horn syndrome | (Orphanet:198) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Opsismodysplasia | (Orphanet:2746) |
Osteocraniostenosis | (Orphanet:2763) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Osteogenesis imperfecta | (Orphanet:666) |
Osteogenesis imperfecta type 2 | (Orphanet:216804) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | (OMIM:614883) |
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) | (OMIM:614887) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PYCR1-related DeBarsy syndrome | (Orphanet:293633) |
Perinatal lethal hypophosphatasia | (Orphanet:247623) |
Peripheral hypothyroidism | (Orphanet:226310) |
Peripheral resistance to thyroid hormones | (Orphanet:97927) |
Permanent congenital hypothyroidism | (Orphanet:226292) |
Polysyndactyly - cardiac malformation | (Orphanet:2934) |
Primary congenital hypothyroidism | (Orphanet:226295) |
Primary congenital hypothyroidism without thyroid developmental anomaly | (Orphanet:95714) |
Progeroid syndrome, Petty type | (Orphanet:2963) |
Pycnodysostosis | (Orphanet:763) |
Renal tubular dysgenesis | (Orphanet:3033) |
Renal tubular dysgenesis of genetic origin | (Orphanet:97369) |
Resistance to thyrotropin-releasing hormone syndrome | (Orphanet:99832) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Rhizomelic syndrome, Urbach type | (Orphanet:3098) |
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | (OMIM:613320) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
TARP syndrome | (Orphanet:2886) |
Thyroid ectopia | (Orphanet:95712) |
Thyroid hemiagenesis | (Orphanet:95719) |
Thyroid hypoplasia | (Orphanet:95720) |
Toriello-Carey syndrome | (Orphanet:3338) |
Transient congenital hypothyroidism | (Orphanet:178045) |
Triopia | (Orphanet:3374) |
Triploidy | (Orphanet:3376) |
Trisomy 13 | (Orphanet:3378) |
Trisomy 18 | (Orphanet:3380) |
Ulna hypoplasia - intellectual deficit | (Orphanet:2249) |
VACTERL/VATER association | (Orphanet:887) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |